Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes

Overview

Journal J Clin Med

Specialty General Medicine

Date 2020 Nov 26

PMID 33238542

Citations 18

Authors

Martin H Steinberg

Affiliations

Soon will be listed here.

Abstract

Fetal hemoglobin (HbF) usually consists of 4 to 10% of total hemoglobin in adults of African descent with sickle cell anemia. Rarely, their HbF levels reach more than 30%. High HbF levels are sometimes a result of β-globin gene deletions or point mutations in the promoters of the HbF genes. Collectively, the phenotype caused by these mutations is called hereditary persistence of fetal hemoglobin, or HPFH. The pancellularity of HbF associated with these mutations inhibits sickle hemoglobin polymerization in most sickle erythrocytes so that these patients usually have inconsequential hemolysis and few, if any, vasoocclusive complications. Unusually high HbF can also be associated with variants of the major repressors of the genes, and . Perhaps most often, we lack an explanation for very high HbF levels in sickle cell anemia.

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