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Hereditary persistence of fetal hemoglobin - beta-thalassemia

Orpha number ORPHA46532
Synonym(s) HPFH - beta-thalassemia
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD-10
  • D56.4
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 16964007

Summary

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. Prevalence of this form is not known. The association of HPFH with beta-thalassemia mitigates the clinical manifestations which vary from a normal state to beta-thalassemia intermedia (see this term). HPFH is due to deletions in the beta-globin gene cluster or point mutations in the HBG1 and HBG2 genes (11p15.5). Diagnosis is based on the presence of a significant elevation in HbF ranging from 10-40% in heterozygotes with normal or near normal red blood cell indices. HbF is homogeneously distributed among the erythrocytes and HbA2 is normal or reduced. The distinction between HPFH and delta-beta-thalassemia (see this term) is subtle and should be confirmed by alpha-beta-globin chain synthesis ratio and DNA analysis since the distinction between these two conditions is not always possible from routine hematologic analyses. HPFH transmission is co-dominant. Homozygosis for the non-deletional form has to date been reported in rare cases.

Expert reviewer(s)

  • Pr Renzo GALANELLO
  • Dr R ORIGA

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