Hereditary persistence of fetal hemoglobin
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Hereditary persistence of foetal hemoglobin; HPFH
Overview
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]
Historical Perspective
Historical Perspective
Classification
Classification
Pathophysiology
Pathophysiology
Genetics
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]
Causes
Causes
Differentiating Hereditary persistence of fetal hemoglobin from Other Diseases
Differentiating Hereditary persistence of fetal hemoglobin from Other Diseases
Epidemiology and Demographics
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]
Epidemiology and Demographics
Epidemiology and Demographics
Risk Factors
Risk Factors
Screening
Screening
Natural History, Complications, and Prognosis
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
Diagnosis
Diagnostic Criteria
History and Symptoms
The condition is usually asymptomatic, and is only noticed when screening for other hemoglobin disorders.
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Treatment
Medical Therapy
Surgery
Prevention
References
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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