Hereditary persistence of fetal hemoglobin: Difference between revisions
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==Overview== | ==Overview== | ||
'''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.<ref>http://cancerweb.ncl.ac.uk/cgi-bin/omd?hereditary+persistence+of+foetal+haemoglobin</ref> | |||
==Causes== | |||
This is usually caused by [[mutation]]s 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.<ref>http://www.enerca.org/PublicPages/Anaemiascovered/HereditarypersistanceoffoetalhaemoglobinHPFH/tabid/177/Default.aspx</ref> | |||
==Epidemiology== | |||
HPFH may alleviate the severity of certain [[hemoglobinopathy|hemaglobinopathies]] and [[thalassemia]]s, and is selected for in populations with a high prevalence of these conditions (which in turn are often selected for in areas where [[malaria]] is endemic). Thus, it has been found to affect black people, as well as Greeks.<ref>{{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=January |pmid=1246351 |doi=10.1038/259138a0 |url=http://www.nature.com/nature/journal/v259/n5539/abs/259138a0.html}}</ref> | |||
==Presentation== | |||
The condition is usually asymptomatic, and is only noticed when screening for other hemoglobin disorders. | |||
== References == | |||
{{reflist}} | |||
{{Myeloid hematologic disease}} | |||
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{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Revision as of 20:20, 20 February 2009
| Hereditary persistence of fetal hemoglobin | |
| ICD-10 | D56.4 |
|---|---|
| ICD-9 | 282.7 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
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.[1]
Causes
This is usually caused by mutations in the β-globin gene cluster.[citation needed] 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.[2]
Epidemiology
HPFH may alleviate the severity of certain hemaglobinopathies and thalassemias, and is selected for in populations with a high prevalence of these conditions (which in turn are often selected for in areas where malaria is endemic). Thus, it has been found to affect black people, as well as Greeks.[3]
Presentation
The condition is usually asymptomatic, and is only noticed when screening for other hemoglobin disorders.
References
- ↑ http://cancerweb.ncl.ac.uk/cgi-bin/omd?hereditary+persistence+of+foetal+haemoglobin
- ↑ http://www.enerca.org/PublicPages/Anaemiascovered/HereditarypersistanceoffoetalhaemoglobinHPFH/tabid/177/Default.aspx
- ↑ Friedman S, Schwartz E (1976). "Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family". Nature. 259 (5539): 138–40. doi:10.1038/259138a0. PMID 1246351. Unknown parameter
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