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Sickle-Cell Disease Classification

Sickle-cell anaemia is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell anaemia is also referred to as "HbSS", "SS disease", "haemoglobin S" or permutations thereof. In heterozygous people, who have only one sickle gene and one normal adult hemoglobin gene, it is referred to as "HbAS" or "sickle cell trait". Other, rarer forms of sickle-cell disease include sickle-haemoglobin C disease (HbSC), sickle beta-plus-thalassaemia (HbS/β+) and sickle beta-zero-thalassaemia (HbS/β0). These other forms of sickle-cell disease are compound heterozygous states in which the person has only one copy of the mutation that causes HbS and one copy of another abnormal haemoglobin allele.

The term ''disease'' is applied, because the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of haemoglobin are detrimental, a concept known as genetic polymorphism.

In the US sickle-cell anemia usually occurs in African Americans, but sometimes occurs in Latino Americans. In the United States, about one in five hundred black births, and about one in 36,000 Hispanic births, have sickle-cell anemia.

Further Reading


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