Sickle-cell disease classification scheme
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
Classification
"Sickle-cell anemia" is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes Hgb S. Sickle cell anemia is also referred to as "SS disease," "Hemoglobin S," or permutations thereof. Other forms of sickle-cell disease include:
- sickle-hemoglobin C disease
- sickle beta-plus-thalassaemia
- sickle beta-zero-thalassaemia
These other forms of sickle-cell disease are compound heterozygous states in which the person has only one copy of the mutation that causes Hgb S and one copy of another abnormal hemoglobin allele. "Sickle-cell anemia" is a synonym for "sickle-cell disease".
The term "disease" is applied here since the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of hemoglobin are detrimental, a concept known as genetic polymorphisms. Hemoglobin is one of the best-characterized proteins in terms of inherited variants; some variants manifest as severe thalassaemia, such as beta-zero-thalassaemia, and other variants manifest as a milder thalassaemia, such as beta-plus-thalassaemia.