Thalassemia is caused by mutations in the DNA of cells that make haemoglobin. Haemoglobin is the protein molecule in red blood cells that carries oxygen throughout human body. The mutations associated with thalassemia are passed from parents to children.
In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of haemoglobin.
Haemoglobin molecules are made of chains called α-and β- chains that can be affected by mutations. In thalassemia, the production of either the α or β chains are reduced, resulting in either α-thalassemia or β-thalassemia.
α-thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent.
β-thalassemias occur most often in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.
The symptoms of thalassemia can vary. Thalassemia signs and symptoms can include:
*Fatigue
*Weakness
*Pale or yellowish skin
*Bone deformities, especially in the face
*Delayed growth and development
*Abdominal swelling
*Dark urine
The disorder results in excessive destruction of red blood cells, which leads to anaemia. People with thalassemia may have mild or severe anaemia. Severe anaemia can damage organs and lead to death.
Bone marrow and stem cell transplant from a compatible related donor is the only treatment that can cure thalassemia. It is the most effective treatment.
Thalassemia
