Hereditary persistence of fetal hemoglobin


Hereditary persistence of fetal hemoglobin

"Hereditary persistence of fetal hemoglobin" (HPFH, BrE: "Hereditary persistence of foetal haemoglobin") is a benign condition in which significant fetal hemoglobin (hemoglobin F) production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced. [http://cancerweb.ncl.ac.uk/cgi-bin/omd?hereditary+persistence+of+foetal+haemoglobin] This is usually caused by mutations in the "β"-globin gene cluster.Fact|date=September 2008 The percentage of incorrect expression might be as low as 10-15% or as high as 100% of the total hemoglobin, usually higher in homozygotes than in heterozygotes. [http://www.enerca.org/PublicPages/Anaemiascovered/HereditarypersistanceoffoetalhaemoglobinHPFH/tabid/177/Default.aspx] It most commonly affects blacks, as well as Greek people. [cite journal |author=Friedman S, Schwartz E |title=Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family |journal=Nature |volume=259 |issue=5539 |pages=138–40 |year=1976 |month=Jan |pmid=1246351 |doi=10.1038/259138a0 |url=http://www.nature.com/nature/journal/v259/n5539/abs/259138a0.html] The condition is usually asymptomatic, and is only noticed when screening for other hemoglobin disorders.

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