Anemia

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.

Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction.

Conditions that may lead to anemia include

  • Heavy periods
  • Pregnancy
  • Ulcers
  • Colon polyps or colon cancer
  • Inherited disorders
  • A diet that does not have enough iron, folic acid or vitamin B12
  • Blood disorders such as sickle cell anemia and thalassemia, or cancer
  • Aplastic anemia, a condition that can be inherited or acquired
  • G6PD deficiency, a metabolic disorder

Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache.

Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.

NIH: National Heart, Lung, and Blood Institute

Different Conditions

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Acquired aplastic anaemias

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

Additional Information

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. The disease may occur at any age but it preferentially affects young adults. The prevalence is estimated at approximately 1/500,000. The variable clinical manifestations include hemolytic anemia, large vessel thrombosis (involving the hepatic, abdominal, cerebral, and dermal veins), and mild to severe hematopoietic deficiency that may lead to pancytopenia. Pallor, fatigue, and shortness of breath with activity are the usual manifestations. Hemoglobinuria results in the production of classically dark urine during the night and in the morning, and patients may present with renal deficiency. Jaundice may be present. Depending on their localization, thromboses (which affect 40% of patients) may manifest as abdominal pain, intestinal ischemia, hepatomegaly, ascites, or headaches. Patients may present gingivorrhagia or epistaxis. PNH is a chronic disease with hemolytic crises that may be triggered by several factors such as vaccination, surgery, certain antibiotics, and infections. Bone marrow failure may occur initially or as a late complication of the disease (20% of cases). PNH is caused by somatic mutations in the PIGA gene (Xp22.1), encoding a protein involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor. The mutation occurs in one or several hematopoietic cells and leads to a lack (total or partial) of all GPI-anchored cell membrane proteins (the most important being CD55 and CD59). Diagnosis is based on the demonstration of GPI-linked antigen deficiency in red cells and granulocytes by flow cytometry. Molecular analysis is unreliable for diagnosis as the causative mutations are non-homogenous and non-repetitive. Differential diagnoses include all the other forms of anemia (in particular autoimmune hemolytic anemia, see this term), mesenteric artery thrombosis, portal vein obstruction, and renal vein thrombosis. Treatment is primarily symptomatic: transfusions, and administration of erythropoietin, glucocorticoids, and anticoagulants. In June 2007, eculizumab (a monoclonal antibody) obtained EU designation as an orphan drug for the treatment of PNH and reduces hemolysis, the need of transfusions, fatigue, the occurrence of thrombosis and the risk of renal deficiency. However, only bone marrow transplantation permanently abolishes the hematopoietic defect. Prognosis depends on the frequency and severity of hemolytic crises, thrombosis and bone marrow failure. Median survival is about 10.3 years. Death may occur due to thrombosis, hemorrhage or infections secondary to bone marrow failure.

Signs And Symptoms

  • Hemoglobinuria (finding)
  • Organ Affected

    Blood (substance)

    Abbreviated Terms

  • nocturnal haemoglobinuria
  • nocturnal paroxysmal haematuria
  • nocturnal paroxysmal haemoglobinemia
  • Also Known As

  • Marchiafava-Micheli disease
  • Marchiafava-Micheli syndrome
  • Related ICD 10 COde
    ICD 10 Code D59.5

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    Acquired haemolytic anaemia, immune

    A disease caused by determinants such as a blood transfusion that lead to an immune response directed against the person's own red blood cells. This disease is characterised by low levels of red blood cells in the body due to abnormal destruction of the red blood cells. This disease may present with pallor, fatigue, or shortness of breath. Confirmation is by identification of low red blood cell count in a blood sample.
    Related ICD 10 COde
    ICD 10 Code D59

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    Acquired haemolytic anaemia, non-immune

    This is a microangiopathic subgroup of hemolytic anemia (loss of red blood cells through destruction) caused by factors in the small blood vessels. It is identified by the finding of anemia and schistocytes on microscopy of the blood film.
    Related ICD 10 COde
    ICD 10 Code D59

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    Acquired haemolytic anaemia

    A condition characterised by antibodies that are directed against red blood cells in an autoimmune reaction leading to low levels of red blood cells. This condition may present with pallor, fatigue, shortness of breath. Confirmation is by identification of antibodies in a blood sample and positive Coombs test result.
    Related ICD 10 COde
    ICD 10 Code D59

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    Acquired iron deficiency anaemia due to blood loss

    Chronic iron-deficiency anaemia from bleeding may be caused by colon cancer, gastric cancer, peptic ulcer, Meckel diverticulum, hiatal hernia with linear erosions, colonic vascular ectasia, colonic polyps, haemangioma, inflammatory bowel disease, tumours in the gastrointestinal tract or uterus, and chronic menorrhagia. Some infants with severe iron deficiency have chronic intestinal blood loss induced by exposure to cow's milk protein. Repeated phlebotomy for blood tests is a cause of anaemia of prematurity.

    Abbreviated Terms

  • posthaemorrhagic anaemia NOS
  • Also Known As

  • Chronic posthaemorrhagic iron deficiency anaemia
  • Related ICD 10 COde
    ICD 10 Code D50.0

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    Acquired iron deficiency anaemia due to decreased absorption

    Gastrectomy can be due to gastric cancer or gastric bypass for obesity (this form of surgery bypasses the duodenum, the major site of intestinal iron absorption). As a result, iron deficiency can occur following gastric bypass surgery, not only through the bypassing of the site of major iron absorption, but also as the result of decreased gastric acid availability.
    Related ICD 10 COde
    ICD 10 Code D50

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    Related ICD 10 COde
    ICD 10 Code D50

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    Related ICD 10 COde
    ICD 10 Code D50

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    Acquired megaloblastic anaemias due to folate deficiency

    A disease caused by determinants affecting intestinal absorption of folate arising after birth. This disease is characterised by low levels of folate in the body leading to incomplete formation of red blood cells resulting in large numbers of immature and incompletely developed red blood cells. This disease may present with fatigue, muscle weakness, loss of appetite, weight loss, diarrhoea, nausea, tachycardia or extremity paresthesia. Confirmation is by identification of low folate levels in a blood sample.

    Also Known As

  • Acquired megaloblastic anaemia due to folate deficiency secondary to intestinal disorders
  • Acquired megaloblastic anaemia due to decreased intestinal absorption of folate
  • Megaloblastic anaemia due to decreased intestinal absorption of folate
  • Related ICD 10 COde
    ICD 10 Code D52

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    Related ICD 10 COde
    ICD 10 Code D70

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    Acquired pure red cell aplasia

    This is a disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. This diagnosis is due to acquired pure red cell aplasia [erythroblastopenia].

    Abbreviated Terms

  • Osteonecrosis due to erythroblastopenia
  • Related ICD 10 COde
    ICD 10 Code D60

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    Acquired sideroblastic anaemias

    This is a secondary disease in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes), due to disease.
    Related ICD 10 COde
    ICD 10 Code D64.1

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    Acquired vitamin B12 deficiency anaemia

    A disease caused by insufficient intake of vitamin B12 into the body. This disease is characterised by low levels of vitamin B12 leading to low levels of red blood cells. This disease may present with pallor, fatigue, or shortness of breath. Confirmation is by identification of low levels of vitamin B12 and red blood cell count in a blood sample.

    Abbreviated Terms

  • Dietary vitamin B12 deficiency anaemia
  • Also Known As

  • Megaloblastic anaemia due to vitamin B12 deficiency due to low intake
  • Related ICD 10 COde
    ICD 10 Code D51

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    Related ICD 10 COde
    ICD 10 Code D59

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    Anaemias and other erythrocyte disorders

    A disease caused by chronic diseases such as chronic infection. This disease is characterised by inflammatory responses targeted at red blood cells leading to low levels of red blood cells in the body. This disease may present with pallor, fatigue, or shortness of breath. Confirmation is by identification of low levels of red blood cells in a blood sample.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    Chronic disease (disorder)
    Related ICD 10 COde
    ICD 10 Code D63.8

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    Autoimmune haemolytic anaemia, cold type

    Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30?â?ÇÜ?é?¥C) that manifests as acute or chronic hemolytic anemia.

    Abbreviated Terms

  • cold agglutinin disease or hemoglobinuria
  • cold hemagglutinin disease
  • Cold agglutinin haemoglobinuria
  • CHAD - [cold hemagglutinin disease]
  • Also Known As

  • Cold agglutinin disease
  • Related ICD 10 COde
    ICD 10 Code D59

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    Certain maternal diseases classifiable elsewhere but complicating pregnancy, childbirth or the puerperium

    A condition of the circulatory system affecting pregnant females, characterized by a hemoglobin level below 11 grams per decilitre that complicates pregnancy, childbirth, or the puerperium.

    Organ Affected

    Blood (substance)

    Causes

    Anemia (disorder)

    Abbreviated Terms

  • Aplastic and other anaemias complicating pregnancy, childbirth and the puerperium
  • Haemolytic anaemias complicating pregnancy, childbirth and the puerperium
  • Nutritional anaemias complicating pregnancy, childbirth and the puerperium
  • anaemia of the puerperium
  • Valsuani's disease
  • Anaemia of or complicating pregnancy
  • anaemia in mother complicating pregnancy, childbirth or puerperium
  • puerperal anaemia
  • macrocytic anaemia of or complicating pregnancy
  • megaloblastic anaemia of or complicating pregnancy
  • Related ICD 10 COde
    ICD 10 Code O99.0

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    Related ICD 10 COde
    ICD 10 Code D59.4

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    Congenital aplastic anaemia

    A pediatric condition characterized by a decreased number of red blood cells (RBCs) or lower than the normal levels of hemoglobin in the blood of a newborn present at birth due to loss of blood from the circulatory system of the fetus.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Erythrocyte (cell)

    Causes

    Hemorrhage (morphologic abnormality)|Congenital (qualifier value)

    Also Known As

  • Pearson Marrow-Pancreas Syndrome
  • Related ICD 10 COde
    ICD 10 Code P61.3

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    Congenital dyserythropoietic anaemia

    This is a congenital disorder of blood cell production, particularly of the production of erythroblasts, which are the precursors of the red blood cells (RBCs).

    Also Known As

  • CDA type 1 -[Congenital dyserythropoietic anaemia type 1]
  • Related ICD 10 COde
    ICD 10 Code D64.4

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    Congenital intestinal transport defect

    Imerslund-Gr?â?ñsbeck syndrome or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. Other manifestations include failure to thrive and grow, infections and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. The cause is a defect in the receptor of the vitamin B12-intrinsic factor complex of the ileal enterocyte. In most cases, the molecular basis of the selective malabsorption and proteinuria involves a mutation in one of two genes, cubilin (CUBN) on chromosome 10 or amnionless (AMN) on chromosome 14. Both the proteins are components of the intestinal receptor for the vitamin B12-intrinsic factor complex and the receptor mediating the tubular reabsorption of protein from the primary urine.

    Additional Information

    Imerslund-Gr?â?ñsbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. Other manifestations include failure to thrive and grow, infections and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. Anatomical anomalies in the urinary tract were observed in some Norwegian patients. Vitamin B12 absorption tests show low absorption, not corrected by administration of intrinsic factor. The symptoms appear from 4 months (not immediately after birth as in transcobalamin deficiency) up to several years after birth. The syndrome was first described in Finland and Norway where the prevalence is about 1/200 000. The cause is a defect in the receptor of the vitamin B12-intrinsic factor complex of the ileal enterocyte. In most cases, the molecular basis of the selective malabsorption and proteinuria involves a mutation in one of two genes, cubilin (CUBN) on chromosome 10 or amnionless (AMN) on chromosome 14. Both the proteins are components of the intestinal receptor for the vitamin B12-intrinsic factor complex and the receptor mediating the tubular reabsorption of protein from the primary urine. Management includes life-long vitamin B12 injections, and with this regimen, the patients stay healthy for decades. However, the proteinuria persists. In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency.

    Signs And Symptoms

  • Proteinuria (finding)
  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    Malabsorption syndrome (disorder)|Cobalamin deficiency (disorder)

    Also Known As

  • selective cobalamin malabsorption with proteinuria
  • familial megaloblastic anaemia
  • Related ICD 10 COde
    ICD 10 Code D51.1

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    Congenital or neonatal vitamin B12 deficiency anaemia

    Congenital intrinsic factor deficiency is a rare disorder of vitamin B12 (cobalamin) absorption that is characterised by megaloblastic anaemia and neurological abnormalities.

    Also Known As

  • Congenital pernicious anaemia
  • Related ICD 10 COde
    ICD 10 Code D51.0

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    Congenital polycythaemia

    A disease caused by genetically inherited factors leading to changes in the concentration of red blood cells. This disease is characterised by having a high concentration of red blood cells in the body leading to slow flow of blood. Confirmation is by identification of mutations by genetic testing.

    Also Known As

  • Primary familial polycythaemia
  • Primary inherited polycythaemia
  • Related ICD 10 COde
    ICD 10 Code D75.0

    ----------------------

    Signs And Symptoms

  • Anemia (disorder)
  • Abbreviated Terms

  • familial sex linked hypochromic anaemia
  • Also Known As

  • Sex-linked hypochromic sideroblastic anaemia
  • Autosomal recessive sideroblastic anaemia
  • Related ICD 10 COde
    ICD 10 Code D64.0

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    Related ICD 10 COde
    ICD 10 Code D70

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    Deficiencies of B group vitamins

    A deficiency of vitamin B6 alone is uncommon because it usually occurs in association with a deficit in other B-complex vitamins. Hypovitaminosis B6 may often occur with riboflavin (vitamin B2) deficiency. The classical clinical symptoms of vitamin B6 deficiency are a seborrheic dermatitis, microcytic anaemia, epileptiform convulsions, and depression and confusion. Infants are especially susceptible to insufficient intakes, which can lead to epileptiform convulsions. Moreover, there is usually a decrease in circulating lymphocytes and sometimes a normocytic, microcytic, or sideroblastic anaemia as well. As is the case with other micronutrient deficiencies, vitamin B6 deficiency results in an impairment of the immune system. Several medical conditions can also affect vitamin B6 metabolism and thus lead to deficiency symptoms.

    Causes

    Vitamin B6 deficiency (disorder)

    Abbreviated Terms

  • vitamin B6 deficiency syndrome
  • Also Known As

  • pyridoxal deficiency
  • pyridoxamine deficiency
  • pyridoxine deficiency
  • Related ICD 10 COde
    ICD 10 Code E53.1

    ----------------------

    Abbreviated Terms

  • sulfite oxidase deficiency
  • beery-baby syndrome
  • cystathionine gamma-lyase deficiency
  • cystathionine synthase deficiency
  • cystathioninemia
  • deficiency of cystathionase
  • deficiency of cysteine desulfhydrase
  • deficiency of cysteine desulphydrase
  • deficiency of cystine desulfhydrase
  • deficiency of cystine desulphydrase
  • deficiency of homoserine deaminase
  • deficiency of methionine adenosyltransferase
  • familial methionine malabsorption
  • hepatic methionine adenosyltransferase deficiency
  • homocystinemia
  • hypermethioninemia
  • methionine malabsorption syndrome
  • oast-house disease
  • oast-house urine disease
  • oasthouse disease
  • oasthouse urine disease
  • sulfite oxidase deficiency syndrome
  • sulfocysteinuria
  • sulphite oxidase deficiency
  • sulphite oxidase deficiency syndrome
  • sulphocysteinuria
  • CTH - [cystathioninuria]
  • cystathionine metabolic disorder
  • homocystine metabolic disorder
  • methionine metabolic disorder
  • Smith-Strang disease
  • Also Known As

  • Disorders of sulfur-bearing amino-acid metabolism
  • disorder of sulfur-bearing amino acid including those due to folate and b12 disturbance
  • disorder of sulphur-bearing amino acid including those due to folate and b12 disturbance
  • disorder of sulphur-bearing amino acid metabolism
  • disorder of transsulfuration
  • disorder of transsulphuration
  • disturbances of sulphur-bearing amino-acid metabolism
  • sulphuraminoacidaemia
  • Related ICD 10 COde
    ICD 10 Code E72.1

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    Disorders of iron metabolism

    Iron overload is the accumulation of excess iron in body tissues. Iron overload usually occurs as a result of a genetic predisposition to absorb and store iron in excess amounts, the most common form of which is hereditary hemochromatosis. Iron overload can also occur as a complication of other hematologic disorders that require chronic transfusion therapy, repeated injections of parenteral iron, or excessive iron ingestion. Excessive iron stores usually accumulate in the reticuloendothelial tissues and cause little damage (?â?ó?é?é¼?é?ôhemosiderosis?â?ó?é?é¼?é?¥). If overload continues, iron eventually begins to accumulate in tissues such as hepatic parenchyma, pancreas, heart and synovium, causing hemochromatosis.
    Related ICD 10 COde
    ICD 10 Code E83.1

    ----------------------

    Disorders of methionine cycle or sulfur amino acid metabolism

    A disease caused by defective intestinal absorption of vitamin B12 due to autosomal recessive genetic mutation. This disease may present with vomiting, poor growth, infections due to hypogammaglobulinemia, or megaloblastic anaemia.

    Additional Information

    Transcobalamin II (TCII) deficiency is an autosomal recessive disease marked by defective intestinal absorption of vitamin B12. Homozygous TCII deficiency causes non-specific symptoms in one- and two-month-old infants (e.g. vomiting, poor growth) and infections due to an immune deficiency (hypogammaglobulinemia). The main symptom is megaloblastic anemia. Serum cobalamins, however, are normal, since the major circulating form, methyl vitamin B12, is bound to another transport protein (transcolabamin I). Specific treatment consists of massive per os or parenteral intake of vitamin B12. Symptoms disappear completely, except when the diagnosis is delayed and neurological signs have become permanent.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    Cobalamin deficiency (disorder)|Transcobalamin II deficiency (disorder)

    Abbreviated Terms

  • transcobalamin II deficiency anaemia
  • Also Known As

  • transcobalamin deficiency
  • transcobalamin II deficiency
  • Congenital megaloblastic anaemia due to transcobalamin II deficiency
  • TCN2 - [transcobalamin II deficiency]
  • Related ICD 10 COde
    ICD 10 Code D51.2

    ----------------------

    Disorders of mineral absorption or transport

    This refers to any disorders of the set of chemical reactions maintaining human homeostasis of iron. The control of this necessary but potentially toxic substance is an important part of many aspects of human health and disease.

    Causes

    Disorder of iron metabolism (disorder)

    Abbreviated Terms

  • bronze diabetes
  • diabetic hemochromatosis
  • dietary hemosiderosis
  • familial hemochromatosis
  • hemochromatosis
  • hemosiderosis
  • idiopathic hemochromatosis
  • iron storage disease
  • liver hemochromatosis
  • myocardial hemochromatosis
  • primary hemochromatosis
  • secondary hemochromatosis
  • Hanot Chauffard syndrome
  • Hanot Chauffard Troisier syndrome
  • hemochromatosis NOS
  • iron storage disorder
  • Von Recklinghausen-Applebaum disease
  • Related ICD 10 COde
    ICD 10 Code E83.1

    ----------------------

    Also Known As

  • Disorders with increased neutrophil counts
  • Related ICD 10 COde
    ICD 10 Code D70

    ----------------------

    Disorders of porphyrin or heme metabolism

    X-linked sideroblastic anaemia is a generally microcytic, hypochromic anaemia of varying severity thatpresent at any age from birth to the 9th decade and that may respond to treatment with pyridoxine and folic acid. Female carriers are usually unaffected, however, one quarter of probands are female and almost half of the female probands have macrocytic rather than microcytic red blood cells.

    Additional Information

    X-linked sideroblastic anaemia is generally a microcytic, hypochromic anaemia of varying severity that may respond to treatment with pyridoxine and folic acid. It is a rare disorder with only 100-200 cases and fewer than 100 unrelated probands described in the literature. The anaemia can present at any age from birth to the 9th decade. It is associated with erythroblast mitochondrial iron overload and the appearance of ring sideroblasts after iron staining of bone marrow smears. Increased ineffective and expanded erythropoiesis leads to increased absorption of dietary iron and a risk of iron overload. Symptoms are those of anaemia or iron overload such as weakness, breathlessness, splenomegaly, cardiac problems, pallor, fatigue, abnormal liver function, hyperglycaemia, glucose intolerance and skin hyperpigmentation. Some patients have no symptoms and are detected incidentally by haematological screening or through family study. The causes are the inheritance or de novo occurrence of mutations in the gene encoding the erythroid form of delta amino levulinic acid synthase (ALAS2) on the short arm of the X chromosome. Female carriers are usually unaffected, however, one quarter of probands are female who have X-chromosome inactivation skewed against the unaffected allele and almost half of the female probands have macrocytic rather than microcytic red blood cells due to the heterozygous inheritance of a severe/null allele. Diagnosis requires a full blood and reticulocyte count, measurement of iron stores, exclusion of thalassaemia as a cause, bone marrow biopsy, and mutation analysis of the ALAS2 gene. The differential diagnosis should include other types of sideroblastic anaemia (see these terms). Most female carriers show some evidence of microcytic, hypochromic red blood cells but haematological parameters cannot be relied upon for genetic counselling purposes and DNA analysis is required. Prenatal diagnosis is rarely indicated or requested, however, early diagnosis in a child may be of great benefit for treatment of anaemia and avoidance of iron overload, the main cause of early death in the past. Treatment is supportive and involves haematological monitoring, the surveillance of iron levels, lifetime pyridoxine supplementation in those who respond haematologically and folic acid supplementation. Pyridoxine response varies in degree and is rarely complete. Prophylactic occasional phlebotomy can be performed to prevent iron overload. If iron overload has already developed, phlebotomy, iron chelation or a combination of the two can be used to reduce iron levels to normal and may simultaneously increase the haemoglobin level. Blood transfusions may be needed on occasion but are only required on a regular basis for those most severely affected. Prognosis is variable but for patients with pyridoxine-responsive anaemia whose iron stores are kept low, normal life expectancy should be achievable.

    Also Known As

  • Erythroid 5-aminolevulinate synthase deficiency
  • Pyridoxine-responsive sideroblastic anaemia
  • Related ICD 10 COde
    ICD 10 Code D64.0

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    Disorders of the gamma-glutamyl cycle

    Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.

    Additional Information

    Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. This disease has been detected in at least 70 patients in more than 50 families worldwide. Transmission is autosomal recessive. Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Glutathione synthetase catalyses the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline. The diagnosis usually involves the following: clinical findings, the finding of 5-oxoprolinuria, low levels of glutathione, low activity of glutathione synthetase, and mutation analysis of the glutathione synthetase gene. Antenatal diagnosis is possible. Other causes of 5-oxoprolinuria include 5-oxoprolinase deficiency (see this term), diet (certain infant formulas and tomato juice), severe burns, Stevens-Johnson syndrome (see this term), inborn errors of metabolism not involving the gamma-glutamyl cycle, e.g. X-linked ornithine trancarbamylase deficiency, urea cycle defects, tyrosinemia, as well as homocystinuria (see these terms), drug metabolism (paracetamol, vigabatrin, flucloxacillin, netimicin), prematurity, malnutrition, pregnancy and nephropatic cystinosis. Management includes correction of the acidosis, supplementation with antioxidants and avoidance of drugs known to precipitate hemolytic crises in patients with glucose-6-phosphate dehydrogenase deficiency, e.g. phenobarbital, acetylsalicylic acid and sulfonamides. A long-term follow up study of 28 patients with glutathione synthetase deficiency has showed that the factors most predictive of survival and long-term outcome are early diagnosis, correction of acidosis and early supplementation with vitamin C and vitamin E.
    Related ICD 10 COde
    ICD 10 Code D55.1

    ----------------------

    Also Known As

  • Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
  • Related ICD 10 COde
    ICD 10 Code E72.1

    ----------------------

    Folate deficiency anaemia due to increased requirements

    A disease caused dermatological disorders arising after birth. This disease is characterised by low levels of red blood cells resulting from inhibition of DNA synthesis during red blood cell production. This disease may present with pallor, fatigue, or shortness of breath.

    Abbreviated Terms

  • Acquired megaloblastic anaemia associated with psoriasis
  • Related ICD 10 COde
    ICD 10 Code D52

    ----------------------

    Signs And Symptoms

  • Anemia (disorder)
  • Also Known As

  • Megaloblastic anaemia due to folate deficiency
  • Related ICD 10 COde
    ICD 10 Code D52

    ----------------------

    Also Known As

  • Erythrocyte glutathione synthase deficiency
  • Related ICD 10 COde
    ICD 10 Code D55.1

    ----------------------

    Haemolytic anaemias due to hexose monophosphate shunt or glutathione metabolism anomalies

    Gamma-glutamylcysteine synthetase deficiency is a constitutional hemolytic anemia, (usually rather mild), associated with the presence of neurological signs.

    Additional Information

    Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. The disease has been detected in nine patients from seven families worldwide. Gamma-glutamylcysteine synthetase catalyses the first and rate-limiting step in the synthesis of glutathione. Its deficiency results in low cellular levels of glutathione and gamma-glutamylcysteine. Four different mutations in the heavy subunit have been identified in four families affected by gamma-glutamylcysteine synthetase deficiency. The diagnosis consists of the following stages: clinical findings, the finding of low cellular levels of glutathione, low activity of gamma-glutamylcysteine synthetase, and mutation analysis of the gamma-glutamylcysteine synthetase genes. The differential diagnosis should include glutathione synthetase deficiency (see this term), which is also associated with low levels of glutathione. As transmission is autosomal recessive, families should be referred for genetic counselling. Antenatal diagnosis could be performed by measurement of gamma-glutamylcysteine synthetase activity or mutational analysis (if the mutation in the family is known) of chorionic villi samples or cultured amniocytes. Patients with gamma-glutamylcysteine synthetase deficiency should avoid drugs known to precipitate hemolytic crises in patients with glucose-6-phosphate dehydrogenase deficiency, e.g. phenobarbital, acetylsalicylic acid and sulfonamides. It is possible that patients would benefit from treatment with anti-oxidants but no studies have been made. The prognosis is difficult to predict, as only nine patients are known worldwide.
    Related ICD 10 COde
    ICD 10 Code D55.1

    ----------------------

    Haemolytic anaemias

    A disease characterised by premature destruction of red blood cells arising after birth. This disease is further characterised by low levels of red blood cells in the body due to abnormal destruction of the cells. This disease may present with pallor, fatigue, or shortness of breath. Confirmation is by identification of low red blood cell count in a blood sample.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    Hemolysis (finding)|Hemolysis (observable entity)|Hemolysis (attribute)

    Abbreviated Terms

  • acquired haematogenous icterus
  • acquired haemolytic icterus
  • acquired haemolytic jaundice
  • chronic idiopathic autoimmune haemolytic anaemia
  • haematogenous icterus
  • haematogenous jaundice
  • haemoglobinaemia
  • haemolytic icteroanaemia
  • haemolytic icterus
  • haemolytic jaundice
  • chronic idiopathic haemolytic anaemia
  • idiopathic haemolytic anaemia
  • Related ICD 10 COde
    ICD 10 Code D59

    ----------------------

    Haemorrhagic or haematological disorders of fetus or newborn

    A pediatric condition characterized by a decrease in number of red blood cells (RBCs) or less than the normal quantity of hemoglobin in the blood of a newborn associated with the child being born prior to completing 37 weeks of gestation.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Erythrocyte (cell)

    Causes

    Prematurity of fetus (disorder)
    Related ICD 10 COde
    ICD 10 Code P61.2

    ----------------------

    Related ICD 10 COde
    ICD 10 Code D58.1

    ----------------------

    Hereditary haemolytic anaemia due to enzyme deficiency

    This is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular). This diagnosis is due to is a process that generates NADPH and pentoses (5-carbon sugars) and glutathione metabolism anomalies.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    glutathione metabolism disorder

    Abbreviated Terms

  • anaemia due to 6-phosphogluconate dehydrogenase deficiency
  • anaemia due to Gluthatione synthetase deficiency
  • anaemia due to gamma-glutamylcysteine synthetase deficiency
  • anaemia due to haemolytic nonspherocytic (hereditary), type 1
  • pentose phosphate pathway disorder anaemia
  • anaemia due to pentose phosphate pathway defect
  • erythrocytic glutathione deficiency anaemia
  • glutathione-reductase deficiency anaemia
  • haemolytic nonspherocytic type 1 anaemia
  • hereditary haemolytic nonspherocytic type 1 anaemia
  • Also Known As

  • anaemia due to other disorders of glutathione metabolism
  • Related ICD 10 COde
    ICD 10 Code D55.1

    ----------------------

    Hereditary haemolytic anaemia due to red cell membrane defects

    A haemolytic anaemia resulting from red blood cell membrane protein anomalies and is caused by a genetically inherited mutation leading to non-immune mediated haemolytic anaemia. This disease is characterised by production of red blood cells that are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. This difference in shape makes the red blood cells more prone to rupture. This disease may present with pallor, jaundice, enlarged spleen, fatigue, or shortness of breath. Confirmation is by identification of mutation through genetic testing.

    Signs And Symptoms

  • Spherocytosis (finding)
  • Organ Affected

    Blood (substance)

    Abbreviated Terms

  • Congenital (spherocytic) haemolytic icterus
  • acholuric jaundice
  • congenital hemolytic icterus
  • congenital hemolytic jaundice
  • spherocytosis
  • acholuric icterus
  • hereditary spherocytic anaemia
  • Also Known As

  • Acholuric (familial) jaundice
  • Minkowski-Chauffard disease
  • congenital spherocytosis
  • familial spherocytosis
  • Minkowski-Chauffard syndrome
  • anaemia spherocytic
  • congenital spherocytic hemolytic anaemia
  • Related ICD 10 COde
    ICD 10 Code D58.0

    ----------------------

    Hereditary haemolytic anaemia

    A disease caused by low levels of certain enzymes in the body leading to premature destruction of red blood cells in the antenatal period. This disease is characterised by low levels of red blood cells in the body due to abnormal destruction of the cells. A decrease in red blood cell mass due to premature destruction of erythrocytes in the spleen or peripheral vessels secondary to G6PD or other enzyme deficiency.This disease may present with pallor, fatigue, or shortness of breath.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    Enzymopathy (disorder)

    Abbreviated Terms

  • anaemia due to enzyme disorders
  • Also Known As

  • Constitutional haemolytic anaemia due to enzyme deficiency
  • Related ICD 10 COde
    ICD 10 Code D55

    ----------------------

    Related ICD 10 COde
    ICD 10 Code D64.0

    ----------------------

    Also Known As

  • Homocystinuria due to defect in methylation type cbl E
  • Homocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI E complementation type
  • Related ICD 10 COde
    ICD 10 Code E72.1

    ----------------------

    Abbreviated Terms

  • Agranulocytic angina
  • Neutropenic splenomegaly
  • Werner-Schultz disease
  • chronic agranulocytosis
  • decreased blood leukocyte number
  • hypoleukocytosis
  • infantile agranulocytosis
  • mucositis necroticans agranulocytica
  • periodic agranulocytosis
  • pernicious agranulocytosis
  • primary granulocytopenia
  • primary splenic neutropenia syndrome
  • schultz disease
  • severe infantile genetic agranulocytosis
  • severe infantile genetic neutropenia
  • absence of neutrophils
  • Doan-Wiseman syndrome
  • Also Known As

  • agranulocytosis
  • granulocytopenia
  • granulocytopenic disorder
  • Related ICD 10 COde
    ICD 10 Code D70

    ----------------------

    Immune thrombocytopenic purpura

    Evans syndrome is characterised by the association of autoimmune haemolytic anaemia with another haematological anomaly. The thrombocytopaenia may precede, occur concurrently with, or secondary to the autoimmune haemolytic anaemia.

    Additional Information

    Evans syndrome is characterised by the association of autoimmune haemolytic anaemia with another haematological anomaly (such as destruction of the polynuclear neutrophils, neutropaenia or, more frequently, platelet destruction or thrombocytopaenia). The prevalence is estimated at 1 in 1,000,000. The thrombocytopaenia may precede, occur concurrently with, or secondary to the autoimmune haemolytic anaemia. Evans syndrome is a rare disease for which the treatment strategy is poorly defined. Management usually involves administration of immunosuppressors or splenectomy.
    Related ICD 10 COde
    ICD 10 Code D59

    ----------------------

    Iron deficiency

    Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.

    Additional Information

    Iron deficiency anaemia occurs when iron deficiency is sufficiently severe to diminish erythropoiesis and cause the development of anaemia. Increased demand for iron and/or haematopoiesis, increased iron loss, and decreased iron intake or absorption can cause the deficiency of the iron. Clinical manifestations differ from severity and chronicity of the anaemia, but patients commonly experience fatigue, pallor and reduced exercise capacity. The disease is characterized by microcytic and hypochromic erythrocytes, and the iron binding capacity is increased.

    Signs And Symptoms

  • Anemia (disorder)
  • Fatigue - symptom
  • Pale complexion
  • Postexertional fatigue
  • Where It Occurs

    Circulatory System (Cardiovascular System)

    Organ Affected

    Blood (substance)|Erythrocyte

    Causes

    Iron deficiency (disorder)|Iron deficiency anemia secondary to inadequate dietary iron intake

    Abbreviated Terms

  • asiderotic anaemia
  • hypochromic anaemia
  • Related ICD 10 COde
    ICD 10 Code D50

    ----------------------

    Mechanical haemolytic anaemia

    This is a condition in which the oxygen transport protein hemoglobin is found in abnormally high concentrations in the urine, from marching.

    Also Known As

  • march haemoglobulinuria
  • Related ICD 10 COde
    ICD 10 Code D59.6

    ----------------------

    Mitochondrial substrate carrier disorders

    Adult onset autosomal recessive sideroblastic anemia or GLRX5-related sideroblastic anemia is a very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.

    Also Known As

  • Adult-onset autosomal recessive sideroblastic anaemia
  • Related ICD 10 COde
    ICD 10 Code D64.0

    ----------------------

    Abbreviated Terms

  • Neutrophilic leukaemoid reaction to a plasma cell neoplasm
  • Also Known As

  • Acquired disorders with increased neutrophil counts
  • Related ICD 10 COde
    ICD 10 Code D70

    ----------------------

    Oesophageal web

    Plummer?â?ó?é?é¼?é?Ç£Vinson syndrome is a disorder which presents as a classical triad of dysphagia, iron-deficiency anemia and a web-like growth of membranes in upper oesophagus.

    Additional Information

    Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about the epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life, but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia) may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. The etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

    Signs And Symptoms

  • Dysphagia (disorder)
  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    Iron deficiency (disorder)

    Also Known As

  • Paterson-Kelly syndrome
  • Paterson-Brown Kelly syndrome
  • glossitis syndrome
  • Kelly-Paterson syndrome
  • sideropenic nasopharyngopathy syndrome
  • Plummer-Vinson anaemia
  • Brown Kelly-Paterson syndrome
  • postcricoid web
  • Paterson-Kelly web
  • Faber syndrome
  • Paterson syndrome
  • Kelly syndrome
  • Sideropenic dysphagia
  • Waldenstr?â??m-Kjellberg syndrome.
  • Related ICD 10 COde
    ICD 10 Code D50.1

    ----------------------

    Pernicious anaemia

    The underlying pathogenesis of pernicious anaemia is thought to be autoimmune and may be part of a more general autoimmune disorder called polyglandular autoimmune syndrome type 2 (PAS 2), which can include such disorders as autoimmune thyroid disease, Addison's disease, type 1 diabetes mellitus and vitiligo.
    Related ICD 10 COde
    ICD 10 Code D51.0

    ----------------------

    Related ICD 10 COde
    ICD 10 Code D75.0

    ----------------------

    Related ICD 10 COde
    ICD 10 Code D59.6

    ----------------------

    Pure red cell aplasia

    A condition characterized by the near absence of red blood cell precursors in bone marrow, often associated with thymomas and autoimmune disorders

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Erythrocyte (cell)

    Abbreviated Terms

  • decreased erythroid precursor production
  • acquired red cell aplasia
  • adult red cell aplasia
  • red cell aplasia with thymoma
  • pure red cell aplastic anaemia
  • red cell aplasia NOS
  • red cell aplastic anaemia
  • Related ICD 10 COde
    ICD 10 Code D60

    ----------------------

    Scurvy

    Scorbutic anaemia, is a common finding in infants and young children with scurvy and is related to impaired iron absorption and coexistent haematopoietic nutrient deficiencies including iron, vitamin B12 and folate.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    Nutrition, function (observable entity)

    Also Known As

  • scorbutus anaemia
  • anaemia due to scurvy
  • anaemia due to ascorbic acid deficiency
  • anaemia due to vitamin c deficiency
  • Related ICD 10 COde
    ICD 10 Code D53.2

    ----------------------

    Related ICD 10 COde
    ICD 10 Code E72.1

    ----------------------

    Also Known As

  • Homocystinuria due to methionine synthase deficiency type Cbl G
  • Homocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI G complementation type
  • Related ICD 10 COde
    ICD 10 Code E72.1

    ----------------------

    Vitamin B12 deficiency anaemia due to intrinsic factor deficiency

    Pernicious anaemia is associated with chronic atrophic gastritis, which is linked with autoantibodies directed against gastric parietal cells in approximately 90% of patients. A potential relation between susceptibility to infection with Helicobacter pylori, atrophic gastritis and low serum B12 levels has been suggested; secondary to a common variation in the FUT2 secretor gene, whose product is a mediator of Helicobacter pylori attachment to human gastric mucosa.

    Also Known As

  • food B12 malabsorption
  • Related ICD 10 COde
    ICD 10 Code D51.0

    ----------------------

    Vitamin B12 deficiency anaemia due to low intake

    Vegetarianism and poverty-imposed near-vegetarianism are the most common causes of nutritional vitamin B12 (cobalamin) insufficiency worldwide in all age groups. In such patient populations, low maternal cobalamin status is associated with adverse pregnancy outcomes (preterm birth, intrauterine growth retardation and very early recurrent miscarriage), neural tube defects, reduced neurocognitive performance in children, accelerated bone turnover and low bone mineral density with fractures.

    Abbreviated Terms

  • vegan anaemia
  • Related ICD 10 COde
    ICD 10 Code D51

    ----------------------

    Also Known As

  • Imerslund-Gr?â?ñsbeck disease
  • IGS - [Imerslund-Gr?â?ñsbeck syndrome]
  • Related ICD 10 COde
    ICD 10 Code D51.1

    ----------------------

    Vitamin B12 deficiency

    A disease caused by low levels of vitamin B12 in the body arising after birth. This disease is characterised by decreased levels of vitamin B12 (cobalamin) leading to megaloblastic anaemia; low levels of red blood cells resulting from inhibition of DNA synthesis during red blood cell production. This disease may present with pallor, fatigue, or shortness of breath. Confirmation is by identification of low levels of vitamin B12 in a blood sample.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Causes

    Cobalamin deficiency (disorder)

    Also Known As

  • vitamin b 12 deficiency anaemia
  • Acquired megaloblastic anaemia due to vitamin B12 deficiency
  • Related ICD 10 COde
    ICD 10 Code D51

    ----------------------

    Also Known As

  • Peripheral neuropathy due to vitamin pyridoxine deficiency
  • Related ICD 10 COde
    ICD 10 Code E53.1

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