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Sickle cell anaemia
Sickle cell anemia is a debilitating genetic blood disorder inherited in an autosomal recessive pattern. It's caused by a single point mutation in the gene responsible for the beta-globin chain of hemoglobin. This mutation leads to the production of abnormal hemoglobin, known as hemoglobin S (HbS), instead of the normal hemoglobin A (HbA).
Under conditions of low oxygen, HbS molecules polymerize and aggregate, causing the red blood cells to become stiff and assume a characteristic crescent or "sickle" shape. These sickle cells are rigid and less flexible than normal red blood cells, leading to two major problems: they are easily destroyed, resulting in chronic anemia, and they tend to block small blood vessels, causing painful "vaso-occlusive crises," organ damage, and an increased risk of infections. The trait (heterozygous state) offers some protection against malaria, which explains its higher prevalence in malaria-prone regions.
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