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Causes of Thalassemia

Causes of Thalassemia

Thalassemia is caused by a mutation of the alpha or beta globin genes, specifically HBA1 (or HBA2) and HBB.

Thalassemia Causes: Risk Factors

The following conditions have been cited in various sources as potentially causal risk factors related to Thalassemia:

  • Italian descent
  • Greek descent
  • Mediterranean descent
  • North African descent
  • South-East Asian descent
  • more risk factors »

Inheritance of Thalassemia

Autosomal recessive diseases are usually inherited from both parents who are both usually symptom-free genetic carriers...more »

Race Patterns for Thalassemia Causes:

Race Profile for Thalassemia: Common in people of Italian or Greek descent. Also Mediterranean, North African or South-East Asians....more »

Thalassemia: Geographical Location Profile

Geographical Profile for Thalassemia: Common in Italy and Greece....more »

Thalassemia: Related Medical Conditions

To research the causes of Thalassemia, consider researching the causes of these these diseases that may be similar, or associated with Thalassemia:

Thalassemia: Causes and Types

Causes of Types of Thalassemia: Review the cause informationfor the various types of Thalassemia:

Causes of Broader Categories of Thalassemia: Review the causal information about the various more general categories of medical conditions:

What causes Thalassemia?

Causes: Thalassemia: Adult hemoglobin is composed of two alpha (a) and two beta (b) polypeptide chains. There are two copies of the hemoglobin alpha gene (HBA1 and HBA2), which each encode an a-chain, and both genes are located on chromosome 16. The hemoglobin beta gene (HBB) encodes the b-chain and is located on chromosome 11.

In a-thalassemia, there is deficient synthesis of a-chains. The resulting excess of b-chains bind oxygen poorly, leading to a low concentration of oxygen in tissues (hypoxemia). Similarly, in b-thalassemia there is a lack of b-chains. However, the excess a-chains can form insoluble aggregates inside red blood cells. These aggregates cause the death of red blood cells and their precursors, causing a very severe anemia. The spleen becomes enlarged as it removes damaged red blood cells from the circulation. (Source: Genes and Disease by the National Center for Biotechnology)

Related information on causes of Thalassemia:

As with all medical conditions, there may be many causal factors. Further relevant information on causes of Thalassemia may be found in:

 

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