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

Several other forms of sickle syndrome occur as a result of inheriting one sickle cell gene from one parent and another hemoglobinopathy from another parent. However, the sickle cell anemia is autosomal recessive.

Classification

Sickle cell syndrome includes:

• Sickle-cell anemia
  • Patients who have sickle cell disease who inherit one copy of sickle cell gene from each parent
• Sickle-hemoglobin C disease (Hb SC)
  • These patients with symptoms of sickle cell disease inherit one copy of sickle cell gene from one parent and defective hemoglobin C from another parent
• Sickle β thalassaemia (HbS β thalassaemia)
  • These patients with sickle cell disease inherit one copy of sickle cell gene from one parent and another copy of β thalassaemia gene
  • There are two types of HbS β Thalassaemia: '0' and '+'
    • HbS β 0 Thallasaemia: more severe form of SCD
    • HbS β + Thallasaemia: milder form of SCD
• HbSD, HbSE, and HbSO
  • These patients inherit one copy of sickle cell gene and another copy of abnormal hemoglobin.

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.