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Thalassemia

from Greek: thalassa - Mediterranean sea
Synonyms: thalassaemia, Mediterranean anemia
German: Thalassämie

1 Definition

Thalassemias are genetically caused disorders of hemoglobin synthesis which result in the lack of specific protein chains in hemoglobin molecules.

2 ICD10 codes

D56: Thalassemia
D56.0: Alpha thalassemia
D56.1: Beta thalassemia
D56.2: Delta-beta thalassemia
D56.3: Thalassemia minor
D56.4: Hereditary persistence of fetal hemoglobin (HPFH)
D56.5: Hemoglobin E-beta thalassemia
D56.8: Other thalassemias
D56.9: Thalassemia, unspecified

3 Epidemiology

Thalassemias occur in western and northern Africa, Iraq, Iran, the Arabian peninsula, in the Black Sea Region, as well as in India, Pakistan, Bangladesh, Afghanistan, southern China and South East Asia. In Europe, Italy, Greece, Cyprus, and Turkey are the most affected countries.

This distribution corresponds to the historic malaria belt which is due to the fact that thalassemias protect against malaria, giving carriers of the disease a selective advantage. Estimates assume that globally more than 400 million people carry the beta-thalassemia gene.

4 Classification

Thalassemias can be classified by the underlying gene defect or by their clinical severity.

4.1 Defects

This classification is based on the specific globin chain which is synthesized to a lesser extent. The following types are described:

5 Therapy

Milder forms of thalassemia do not require any kind of therapy. More serious forms require blood transfusions from time to time. Severe forms of thalassemia are treated by giving packed red blood cells depending on the Hb level about once every three weeks as well as iron chelation therapy starting from the third year of age. This therapy uses chelating agents (Deferoxamine) to remove iron from the blood to prevent iron overload. An alternative is a stem cell transplant.

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