alpha-thalassemia

Alpha-thalassemia is a genetic blood disorder characterized by a deficiency in hemoglobin, the protein responsible for oxygen transport in red blood cells. This condition arises from genetic defects affecting the synthesis of alpha-globin chains, which are essential components of hemoglobin.1

In alpha-thalassemia, the genes responsible for producing alpha-globin chains are either deleted or their function is impaired. The severity of the disorder depends on how many of these genes are affected. If one or two genes are impacted, the condition may be mild or asymptomatic. However, if three or all four genes are affected, it can lead to severe anemia, often resulting in stillbirth or death shortly after birth.1

Alpha-thalassemia is more common in individuals with ancestry from the Mediterranean, the Middle East, and southern Asia. While the exact reason for its prevalence in these regions is not fully understood, it is theorized that carrying the thalassemia gene may offer some protection against malaria in those who are heterozygous for the condition.1