A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.

doi:10.1002/ajh.23613

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Article

A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.

American journal of hematology - 1 Feb 2014

Belfer Inna, Youngblood Victoria, Darbari Deepika S, Wang Zhengyuan, Diaw Lena, Freeman Lita, Desai Krupa, Dizon Michael, Allen Darlene, Cunnington Colin, Channon Keith M, Milton Jacqueline, Hartley Stephen W, Nolan Vikki, Kato Gregory J, Steinberg Martin H, Goldman David, Taylor James G

Abstract excerpt

GTP cyclohydrolase (GCH1) is rate limiting for tetrahydrobiopterin (BH4) synthesis, where BH4 is a cofactor for nitric oxide (NO) synthases and aromatic hydroxylases. GCH1 polymorphisms are implicated in the pathophysiology of pain, but have not been investigated in African populations. We examined GCH1 and pain in sickle cell anemia where GCH1 rs8007267 was a risk factor for pain crises in discovery (n = 228;...

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PMID: 24136375
DOI: 10.1002/ajh.23613
PMCID: PMC4281092

Genes

GCH1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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