A Plea for the Newborn Diagnosis of Hb S-Hereditary Persistence of Fetal Hemoglobin

Abstract

The gene for hereditary persistence of fetal hemoglobin (HPFH) in the Caribbean is much more common than previously estimated. To avoid labeling persons with the benign syndrome Hb S (HBB: c.20A>T)/HPFH as a disease and wasting scarce resources, parental studies are recommended when newborn screening reveals a pattern consistent with an SS phenotype.

Keywords:

• Hereditary persistence of fetal hemoglobin (HPFH) genes
• Jamaica
• newborn screening
• school screening

Acknowledgments

We thank the Southern and Western Regional Health Authorities of the Ministry of Health, Jamaica for collection and analysis of cord blood samples. GRS conceived the study, GRS and BES coordinated the laboratory analysis, IRH analyzed the statistical data, and MO, BC and SLT performed the DNA analysis to confirm the identity of the HPFH genes.

Disclosure statement

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

Additional information

Funding

This study was supported by grants from the National Health Fund and the Chase Fund in Jamaica, and the Alcoa Foundation (Pittsburgh, PA, USA).