Thalassaemia

Thalassaemia is a form of inherited autosomal recessive blood disorders characterized by abnormal formation of hemoglobin. The disease has been classified into two types; alpha thalassaemia and beta thalassaemia. The severity of alpha and beta thalassaemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing.

Types

Alpha thalassaemia

Alpha thalassaemia occurs when a gene or genes related to the alpha globin protein are missing or mutated.

Beta thalassaemia

Beta thalassaemia occurs when similar gene defects affect production of the beta globin protein.

Symptoms

Thalassaemias cause the body to make fewer healthy red blood cells and less hemoglobin than normal. The severity of symptoms depends on the type of thalassaemia. Symptoms can include: fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, abdominal swelling, dark urine.

Diagnosis

Thalassaemia is often detected during pregnancy or soon after birth. It can be diagnosed through a routine blood test.

Treatment

Treatment for thalassaemia may include regular blood transfusions, iron chelation therapy, folic acid supplementation, bone marrow transplant, and surgery to remove the spleen or gallbladder.

See also

• Hemoglobinopathy
• Sickle cell disease
• Iron overload

External links

• World Health Organization: Thalassaemia

Thalassaemia Resources
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