Details of Disease

General Information of Disease (ID: DISD21FA)

Disease Name Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Synonyms HPFH-beta-thalassemia syndrome
Definition Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.
Disease Hierarchy
DISQEXHO: Beta-thalassemia and related diseases
DISD21FA: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Disease Identifiers
MONDO ID
MONDO_0018749
UMLS CUI
C0271994
MedGen ID
543715
Orphanet ID
46532
SNOMED CT ID
16964007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HBB TTM6HK1 Supportive Autosomal dominant [1]
HBA2 TTQO71U Strong Biomarker [2]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CUX1 OTU1LCNJ Limited Genetic Variation [3]
HBB OT514IKQ Supportive Autosomal dominant [1]
HBG1 OTVL4NSU Supportive Autosomal dominant [4]
HBG2 OT4J48JJ Supportive Autosomal dominant [1]
KLF1 OT1FK08U Supportive Autosomal dominant [5]
HBA1 OTW2BQF4 Strong Biomarker [2]
TSPYL1 OTVVPELG Strong Altered Expression [6]
HBD OTRQG4WA Definitive Biomarker [2]
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⏷ Show the Full List of 8 DOT(s)

References

1 The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter. Ann Hematol. 2009 Jun;88(6):549-55. doi: 10.1007/s00277-008-0643-0. Epub 2008 Dec 3.
2 Molecular mechanism of high hemoglobin F production in Southeast Asian-type hereditary persistence of fetal hemoglobin.Int J Hematol. 2006 Apr;83(3):229-37. doi: 10.1532/IJH97.E0509.
3 The deletion of the distal CCAAT box region of the A gamma-globin gene in black HPFH abolishes the binding of the erythroid specific protein NFE3 and of the CCAAT displacement protein.Nucleic Acids Res. 1989 Aug 25;17(16):6681-91. doi: 10.1093/nar/17.16.6681.
4 A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia. EMBO J. 1984 Nov;3(11):2641-5. doi: 10.1002/j.1460-2075.1984.tb02187.x.
5 Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1.
6 Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster.Blood Cells Mol Dis. 2006 Sep-Oct;37(2):82-90. doi: 10.1016/j.bcmd.2006.07.003. Epub 2006 Sep 6.