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Alpha thalassemia is an inherited blood disorder caused by reduced or absent production of alpha-globin chains, which are essential components of hemoglobin—the protein responsible for carrying oxygen in red blood cells. The condition results from mutations or deletions in the four alpha-globin genes located on chromosome 16. The severity of alpha thalassemia depends on how many of these genes are affected.

When only one gene is deleted, individuals are silent carriers and typically show no symptoms. If two genes are missing, the condition is known as alpha thalassemia trait, which may cause mild anemia or microcytosis, often mistaken for iron deficiency. Loss of three alpha-globin genes leads to Hemoglobin H (HbH) disease, characterized by moderate to severe anemia, fatigue, jaundice, and an enlarged spleen due to the formation of unstable hemoglobin molecules. Patients with HbH disease may require periodic medical monitoring and, in some cases, blood transfusions.

The most severe form occurs when all four alpha-globin genes are deleted, resulting in Hemoglobin Bart’s hydrops fetalis. This condition leads to the formation of nonfunctional hemoglobin, causing severe anemia in the fetus and typically resulting in stillbirth or death shortly after birth without advanced medical intervention.

Alpha thalassemia is more common in populations from Southeast Asia, the Middle East, Africa, and the Mediterranean. Early diagnosis through genetic testing and prenatal screening plays a crucial role in management, family planning, and reducing complications for affected individuals.