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Article

Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.

Experimental biology and medicine (Maywood, N.J.) - 1 Apr 2016

Liu Li, Pertsemlidis Alexander, Ding Liang-Hao, Story Michael D, Steinberg Martin H, Sebastiani Paola, Hoppe Carolyn, Ballas Samir K, Pace Betty S

Abstract excerpt

Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11. However, people with the same genetic mutation display a wide range of clinical phenotypes. Fetal hemoglobin (HbF) expression is an important genetic modifier of SCD complications leading to milder symptoms and improved long-term survival. Therefore, we...

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Share to Anemia, Sickle Cell
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27022141
DOI: 10.1177/1535370216642047
PMCID: PMC4950389

Genes

HBB
SCD
EFTUD2
GJC1
JAZF1
SPARC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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