Alpha thalassemia X-linked intellectual disability syndrome

Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently.Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down "V," and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose.Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue.Additional features of alpha thalassemia X-linked intellectual disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female (ambiguous genitalia).

Different Conditions

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Alpha thalassaemia

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

Also Known As

  • Hb Bart's hydrops fetalis
  • Alpha thalassaemia hydrops fetalis
  • Haemoglobin Bart hydrops fetalis
  • Related ICD 10 COde
    ICD 10 Code D56.0

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    Related ICD 10 COde
    ICD 10 Code D56.0

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    Thalassaemias

    Alpha-thalassemia is an inherited haemoglobinopathy characterised by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles, and encompassing the alpha thalassaemia trait, haemoglobin H disease (HbH) and Bart's hydrops foetalis.

    Additional Information

    Alpha thalassaemia is characterised by defective synthesis of alpha globin manifesting as one of three clinical pictures of increasing severity: alpha (+) thalassaemia and the alpha thalassaemia trait, haemoglobin H disease (HbH) and Bart's hydrops foetalis. Epidemiological studies reveal that prevalence varies widely depending on the geographic region, ranging from 1 per million in Northern countries to 1 in 10,000 in Southern countries. The alpha (+) and alpha thalassaemia traits (in which one or two for the four globin alleles are mutated) lead to partial deficits in globin synthesis and manifest as hypochromia or microcytosis with symptoms resembling those of iron deficiency without any significant alteration of A2 and F haemoglobin (Hb) levels. HbH (resulting from inactivity or absence of three globin alleles) is characterised by the presence of a fraction of labile Hb, called HbH (beta 4), giving the disease its name. Clinically, HbH disease manifests as a severely hypochromic, reticulocytic and chronic haemolytic anaemia with Heinz bodies and may lead to complications common to all forms of congenital haemolysis. The disease is active from foetal life onwards. Bart's hydrops foetalis (four inactive or absent alleles) causes death in utero between the 5th month of pregnancy and birth with anaemic anasarca, levels of Bart's Hb (gamma 4) of over 80%, and significant maternal morbidity. Transmission is autosomal recessive. The genes encoding haemoglobin alpha 1 and alpha 2 (HBA1 and HBA2) are located in a tandem configuration on chromosome 16p13.3-pter. PCR provides a rapid diagnosis for patients with the most common forms of the disease (deletions of variable size depending on ethnic origin), however, identification of less frequent point mutations may require sequencing of the two genes. The differential diagnosis should include defects in haem synthesis and iron deficiency. Genetic counselling and characterisation of the genetic defect is recommended due to the risk of Bart's hydrops foetalis. Prenatal diagnosis is available for families with a risk of Bart's hydrops foetalis. Severe anaemia may lead to visceral anomalies and patients with HbH disease may require blood transfusions. Splenectomy is also necessary in some cases. Treatments with iron-based agents and some antimalarial drugs should be avoided.

    Signs And Symptoms

  • Anemia (disorder)
  • Organ Affected

    Blood (substance)

    Also Known As

  • alpha thalassaemia syndrome
  • Related ICD 10 COde
    ICD 10 Code D56.0

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    Related ICD 10 COde
    ICD 10 Code D56.0

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