Details of Disease

General Information of Disease (ID: DISK38J4)

Disease Name Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Synonyms HPFH-sickle cell disease syndrome
Definition
A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISGK35P: Inherited hemoglobinopathy
DISK38J4: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Disease Identifiers
MONDO ID
MONDO_0016672
UMLS CUI
C5190890
MedGen ID
1679967
Orphanet ID
251380
SNOMED CT ID
783254003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HBB TTM6HK1 Supportive Autosomal recessive [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HBB OT514IKQ Supportive Autosomal recessive [1]
HBG1 OTVL4NSU Supportive Autosomal recessive [2]
HBG2 OT4J48JJ Supportive Autosomal recessive [2]
KLF1 OT1FK08U Supportive Autosomal recessive [3]
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References

1 Sickle Cell Disease. 2003 Sep 15 [updated 2023 Dec 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Role of the duplicated CCAAT box region in gamma-globin gene regulation and hereditary persistence of fetal haemoglobin. EMBO J. 1996 Jan 2;15(1):143-9.
3 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.