Sickle cell disease

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications.The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.

Different Conditions

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Related ICD 10 COde
ICD 10 Code D57

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Anaemias and other erythrocyte disorders

Any disorder caused by a HbS mutation in the haemoglobin gene. This disorder is characterised by abnormal rigid sickle-shaped red blood cells decreasing its ability to carry oxygen. This disorder may present with fatigue, shortness of breath, dizziness, headaches, pallor of skin or mucous membranes, and jaundice. This disorder is confirmed by identification of HbS mutation by genetic testing.
Related ICD 10 COde
ICD 10 Code D57

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Compound heterozygous sickling disorders with crisis

A disease caused by the inheritance of a HbS mutation from one parent and a HbC mutation from the other parent. This disease is characterised by abnormal rigid sickle-shaped red blood cells and crisis, with symptoms depending on the site of involvement. This disease may present with fatigue, shortness of breath, dizziness, headaches, pallor of skin or mucous membranes, and jaundice. This disease is confirmed by identification of HbS and HbC mutation by genetic testing.

Abbreviated Terms

  • Hb S Hb C disease with crisis
  • Hb SC disease with crisis
  • Related ICD 10 COde
    ICD 10 Code D57.2

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    Compound heterozygous sickling disorders without crisis

    This is a disease of a joint, in the relationship between alleles of a gene, in which one allele masks the expression (phenotype) of another allele at the same locus.
    Related ICD 10 COde
    ICD 10 Code D57.2

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    Related ICD 10 COde
    ICD 10 Code D57

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    Related ICD 10 COde
    ICD 10 Code D57

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    Other haemoglobinopathies

    Haemoglobin C trait or haemoglobin C heterozygosity is the carrier state for haemoglobin C. One beta globin gene is normal while the other carries the haemoglobin C mutation.

    Also Known As

  • haemoglobin C heterozygosity
  • heterozygous Hb C carriers
  • Related ICD 10 COde
    ICD 10 Code D57

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    Sickle cell disease with crisis

    A disease caused by a HbS mutation in the haemoglobin gene. This disease is characterised by abnormal rigid sickle-shaped red blood cells, crisis, and acute chest syndrome. This disease may present with fatigue, shortness of breath, acute chest pain, coughing, dizziness, headaches, pallor of skin or mucous membranes, hypoxia, fever and jaundice. This disease is confirmed by identification of HbS mutation by genetic testing.

    Also Known As

  • HbSS with crisis with acute chest syndrome
  • Related ICD 10 COde
    ICD 10 Code D57.0

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    Sickle cell disorders or other haemoglobinopathies

    Any disease caused by determinants leading to abnormalities the integral structure of the haemoglobin molecule. This disease is characterized by decreased levels of red blood cells in the body. Confirmation is by identification of decreased red blood cell count in a blood sample.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Abbreviated Terms

  • Unstable haemoglobin haemolytic disease
  • abnormal hemoglobin
  • unstable hemoglobin disease
  • haemoglobin dysfunction
  • Stransky-Regala type haemolytic anaemia
  • haemoglobin C A disorder
  • heterozygous for Hb C
  • Abnormal haemoglobin NOS
  • Related ICD 10 COde
    ICD 10 Code D57

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    Sickle cell Hb-C disease with crisis

    A disease caused by the inheritance of a HbS mutation from one parent and a HbC mutation from the other parent. This disease is characterised by abnormal rigid sickle-shaped red blood cells and crisis, and fever. This disease may present with fatigue, fever, shortness of breath, dizziness, headaches, pallor of skin or mucous membranes, and jaundice. This disease is confirmed by identification of HbS and HbC mutation by genetic testing.
    Related ICD 10 COde
    ICD 10 Code D57.2

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    Sickle cell thalassaemia with crisis

    A disease caused by genetically inherited sickle cell (HbS) mutation from one parent and a thalassemia mutation from the other parent. This disease is characterised by abnormal rigid sickle-shaped red blood cells and abnormal production of the beta chain in a haemoglobin molecule, crisis and, fever. This disease may present with pallor, jaundice, fever, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.
    Related ICD 10 COde
    ICD 10 Code D57.2

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    Sickle cell trait

    This describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous). This diagnosis is with persistent or acute damage to the retina of the eye.
    Related ICD 10 COde
    ICD 10 Code D57.3

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