Hereditary persistence of fetal hemoglobin: Difference between revisions
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==Overview== | ==Overview== | ||
'''Hereditary persistence of fetal hemoglobin''' | '''Hereditary persistence of fetal hemoglobin''' 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== | ==Causes== | ||
This is usually caused by [[mutation]]s in the ''β''-globin gene cluster. 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> | This is usually caused by [[mutation]]s in the ''β''-globin gene cluster. 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== | ==Epidemiology and Demographics== | ||
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> | 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> | ||
== | ==Diagnosis== | ||
===Symptoms=== | |||
The condition is usually asymptomatic, and is only noticed when screening for other hemoglobin disorders. | The condition is usually asymptomatic, and is only noticed when screening for other hemoglobin disorders. | ||
Revision as of 16:36, 21 September 2012
| Hereditary persistence of fetal hemoglobin | |
| ICD-10 | D56.4 |
|---|---|
| ICD-9 | 282.7 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Hereditary persistence of foetal hemoglobin; HPFH
Overview
Hereditary persistence of fetal hemoglobin 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. 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 and Demographics
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]
Diagnosis
Symptoms
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
|month=ignored (help)