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Alpha thalassaemia is a hereditary blood disorder caused by mutations or deletions in the genes responsible for producing alpha-globin, an essential component of haemoglobin. Haemoglobin carries oxygen throughout the body, and reduced alpha-globin production leads to the formation of abnormal red blood cells. The severity of alpha thalassaemia depends on how many of the four alpha-globin genes are affected.

Individuals with one missing gene are typically silent carriers and have no symptoms. Loss of two genes results in the alpha thalassaemia trait, which may cause mild anaemia. When three genes are affected, a condition known as Haemoglobin H disease develops, leading to moderate to severe anaemia, fatigue, enlarged spleen, and jaundice. Deletion of all four alpha-globin genes causes Hb Bart syndrome, a life-threatening condition that often results in severe fetal anaemia and hydrops fetalis.

Diagnosis involves complete blood count (CBC), haemoglobin analysis, and genetic testing to identify gene deletions. Treatment depends on disease severity and may include folic acid supplementation, blood transfusions, iron chelation therapy for transfusion-related iron overload, and, in selected cases, stem cell transplantation. Genetic counselling is recommended for affected families to understand inheritance patterns and reduce the risk of severe disease in future pregnancies. Early diagnosis and appropriate management significantly improve long-term health outcomes and quality of life.