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?
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: