Medical Services

Alpha thalassaemia is a genetic blood disorder caused by reduced or absent production of alpha-globin chains, which are essential components of haemoglobin. It occurs when mutations or deletions affect the genes responsible for making alpha-globin, usually the HBA1 and HBA2 genes. The severity depends on how many affected gene copies are inherited.

People with one affected gene may have a silent carrier state without noticeable symptoms. Those with two affected genes can develop alpha thalassaemia trait, often associated with mild microcytic anaemia. More significant gene loss can cause haemoglobin H disease, leading to moderate or severe anaemia, fatigue, weakness, jaundice, and an enlarged spleen. In the most severe form, alpha thalassaemia major, all four alpha-globin genes are affected, resulting in profound anaemia and serious complications before or around birth.

Diagnosis commonly involves a complete blood count, blood smear, haemoglobin analysis, and genetic testing. Management depends on disease severity and may include regular monitoring, folic acid supplementation, blood transfusions, or specialised treatment for complications. Genetic counselling and carrier screening can help families understand inheritance patterns and reproductive risks.