Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease

Abstract

Hereditary persistence of fetal hemoglobin (HPFH) can be caused by point mutations in the γ-globin gene promoters. We report three rare cases: a child compound heterozygous for Hb S (HBB: c.20A > T) and HPFH with a novel point mutation in the ^Aγ-globin gene promoter who had 42.0% Hb S, 17.0% Hb A and 38.0% Hb F; a man with Hb SC (HBB: c.19G > A) disease and a point mutation in the ^Gγ-globin gene promoter who had 54.0% Hb S, 18.0% Hb C and 25.0% Hb F; a child heterozygous for Hb S and HPFH due to mutations in both the ^Aγ- and ^Gγ-globin gene promoters in cis [^Gγ^Aγ(β⁺) HPFH], with 67.0% Hb A, 6.5% Hb S and 25.0% Hb F.

• Globin gene expression
• globin genes
• Hb F
• sickle cell trait

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.