Hereditary persistence of fetal hemoglobin

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Hereditary persistence of fetal hemoglobin
ICD-10 D56.4
ICD-9 282.7

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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]

Historical Perspective

Classification

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

Differentiating Hereditary persistence of fetal hemoglobin from Other Diseases

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

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

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

Medical Therapy

Surgery

Prevention

References

  1. http://cancerweb.ncl.ac.uk/cgi-bin/omd?hereditary+persistence+of+foetal+haemoglobin
  2. http://www.enerca.org/PublicPages/Anaemiascovered/HereditarypersistanceoffoetalhaemoglobinHPFH/tabid/177/Default.aspx
  3. 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)

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