RESUMO

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.

Assuntos

Hemoglobina Fetal/genética , Hemoglobina Falciforme/genética , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Alelos , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Recém-Nascido , Triagem Neonatal , Fenótipo