Sickle Cell Disease Ontology Project

Hemoglobin Genotype S/HPFH

http://scdontology.h3abionet.org/ontology/SCDO_1000069


Genotype whereby a person is heterozygous for a hemoglobin S mutation and heterozygous for a mutation that causes persistant fetal hemoglobin production into adulthood. HPFH causative mutations are largely due to deletions in the beta-globin locus, but also by point mutations in the gamma-globin gene promoters.

Term info

curator note

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dc:creator

SCDO (Clair Ingram)

definition source

Stamatoyannopoulos, G. (2005). Control of globin gene expression during development and erythroid differentiation. Experimental Hematology, 33(3), 259. http://doi.org/10.1016/j.exphem.2004.11.007

S/HPFH Genotype, Haemoglobin Genotype S/HPFH

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