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Article

Phenotypic Diversity of Sickle Cell Disease in Patients with a Double Heterozygosity for Hb S and Hb D-Punjab.

Hemoglobin - 1 Sept 2016

Torres Lidiane S, Okumura Jéssika V, Belini-Júnior Édis, Oliveira Renan G, Nascimento Patrícia P, Silva Danilo G H, Lobo Clarisse L C, Oliani Sonia M, Bonini-Domingos Claudia R

Abstract excerpt

Phenotypic heterogeneity for sickle cell disease is associated to several genetic factors such as genotype for sickle cell disease, β-globin gene cluster haplotypes and Hb F levels. The coinheritance of Hb S (HBB: c.20A > T) and Hb D-Punjab (HBB: c.364G > C) results in a double heterozygosity, which constitutes one of the genotypic causes of sickle cell disease. This study aimed to assess the phenotypic diversity...

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Identifiers

PMID: 27535451
DOI: 10.1080/03630269.2016.1222295

Genes

HBB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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