Sickle-cell disease classification scheme

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Cafer Zorkun, M.D., Ph.D. [2] Aarti Narayan, M.B.B.S [3]

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. Other forms of sickle-cell disease include:

These other forms of sickle-cell disease are compound heterozygous states in which the person has only one copy of the mutation that causes Hb S and one copy of another abnormal hemoglobin allele.

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.

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