The compound state: Hb S/beta-thalassemia

Abstract excerpt

Sickle cell disease (SCD) results from a single amino acid substitution in the gene encoding the ␤-globin subunit (␤6Glu > Val) that produces the abnormal hemoglobin (Hb) named Hb S. SCD has different genotypes with substantial variations in presentation and clinical course (Table 1). 1,2The combination of the sickle cell mutation and beta-thalassemia (␤-Thal) mutation gives rise to a compound heterozygous...

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