MCID: HRD024
MIFTS: 55

Hereditary Persistence of Fetal Hemoglobin malady

Genetic diseases, Immune diseases, Blood diseases, Rare diseases categories
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Summaries for Hereditary Persistence of Fetal Hemoglobin

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Hereditary persistence of fetal hemoglobin (HPFH, BrE: Hereditary persistence of foetal haemoglobin) is... more...

MalaCards: Hereditary Persistence of Fetal Hemoglobin, also known as hereditary persistence of fetal hemoglobin - beta-thalassemia, is related to beta thalassemia and sickle cell anemia, and has symptoms including pallor, hemoglobinosis/hemoglobinopathy and hemoglobinosis/hemoglobinopathy. An important gene associated with Hereditary Persistence of Fetal Hemoglobin is HBB (hemoglobin, beta), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and O2/CO2 exchange in erythrocytes. The compounds de-oxy and s-nitrosocysteine have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and testes, and related mouse phenotypes are integument and hematopoietic system.

Description from OMIM:47 141749,142335,142470,305435,613566

Aliases & Classifications for Hereditary Persistence of Fetal Hemoglobin

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20GeneTests, 47OMIM, 62UMLS, 49Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

49
delta-beta-thalassemia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
hereditary persistence of fetal hemoglobin - beta-thalassemia:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

hereditary persistence of fetal hemoglobin 20 47
hereditary persistence of fetal hemoglobin - beta-thalassemia 49
fetal hemoglobin quantitative trait locus 1 62
hpfh - beta-thalassemia 49
delta-beta-thalassemia 49
delta beta thalassemia 62


External Ids:

ICD10 via Orphanet26 D56.2, D56.4
SNOMED-CT via Orphanet59 16360009, 16964007
UMLS via Orphanet63 C0271985
ICD1025 D56.4

Related Diseases for Hereditary Persistence of Fetal Hemoglobin

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Persistence of Fetal Hemoglobin:



Diseases related to hereditary persistence of fetal hemoglobin

Symptoms for Hereditary Persistence of Fetal Hemoglobin

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

141749

Clinical features from OMIM:

141749,142335,142470,305435,613566

Symptoms:

49 (show all 7)
  • pallor
  • hemoglobinosis/hemoglobinopathy
  • microcytic anemia
  • anaemia
  • anomalies of bones/skeletal anomalies
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)

Drugs & Therapeutics for Hereditary Persistence of Fetal Hemoglobin

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hereditary Persistence of Fetal Hemoglobin

Search NIH Clinical Center for Hereditary Persistence of Fetal Hemoglobin

Genetic Tests for Hereditary Persistence of Fetal Hemoglobin

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20GeneTests
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Genetic tests related to Hereditary Persistence of Fetal Hemoglobin:

id Genetic test Affiliating Genes
1 Hereditary Persistence of Fetal Hemoglobin20 HBD

Anatomical Context for Hereditary Persistence of Fetal Hemoglobin

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33MalaCards
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MalaCards organs/tissues related to Hereditary Persistence of Fetal Hemoglobin:

33
Bone, Liver, Testes

Animal Models for Hereditary Persistence of Fetal Hemoglobin or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hereditary Persistence of Fetal Hemoglobin:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3GATA1, KLF1, CUX1, POU2F1, HBB
2MP:00053977.7GATA1, HBB, POU2F1, CUX1, BCL11A, KLF1

Publications for Hereditary Persistence of Fetal Hemoglobin

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52PubMed
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Articles related to Hereditary Persistence of Fetal Hemoglobin:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Two Novel Mutations (HBG1: c.-250C>T and HBG2: c.-250C>T) Associated With Hereditary Persistence of Fetal Hemoglobin. (24144231)
2014
2
Disruption of the Hbs1l-Myb locus causes hereditary persistence of fetal hemoglobin in a mouse model. (23428869)
2013
3
Identical mutations in the paralogous human I^-globin genes leading to hemoglobin variants and nondeletional hereditary persistence of fetal hemoglobin. (21417570)
2011
4
High levels of human gamma-globin are expressed in adult mice carrying a transgene of the Brazilian type of hereditary persistence of fetal hemoglobin ((A)gamma -195). (19958189)
2009
5
Purification and identification of proteins that bind to the hereditary persistence of fetal hemoglobin -198 mutation in the gamma-globin gene promoter. (17114178)
2007
6
Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia. (16840228)
2006
7
Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin. (16271016)
2005
8
Molecular basis and hematologic characterization of deltabeta-thalassemia and hereditary persistence of fetal hemoglobin in Thailand. (15257928)
2004
9
Molecular characterization of hereditary persistence of fetal hemoglobin in the Karen people of Thailand. (12779271)
2003
10
Flow cytometric measurement of hemoglobin F in RBCs: diagnostic usefulness in the distinction of hereditary persistence of fetal hemoglobin (HPFH) and hemoglobin S-hPFH from other conditions with elevated levels of hemoglobin F. (12047136)
2002
11
Persistent iron and folate deficiency in a patient with deletional hereditary persistence of fetal hemoglobin; the effect on the relative levels of Hb F and G gamma chains and the corresponding mRNAs. (9494048)
1998
12
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events. (9703422)
1998
13
Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin. (9207480)
1997
14
An intramolecular triplex in the human gamma-globin 5'-flanking region is altered by point mutations associated with hereditary persistence of fetal hemoglobin. (7592674)
1995
15
Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil. (7536477)
1995
16
The -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin. (7514907)
1994
17
Failure of microchromatographic measurement of fetal hemoglobin in beta zero thalassemia-hereditary persistence of fetal hemoglobin. (1385020)
1992
18
Delta beta thalassemia and hereditary persistence of fetal hemoglobin. (1713909)
1991
19
The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene. (1704803)
1991
20
Expression of human globin genes in transgenic mice carrying the beta-globin gene cluster with a mutation causing G gamma beta + hereditary persistence of fetal hemoglobin. (2291546)
1990
21
The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin. (2469505)
1989
22
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. (2452784)
1988
23
X-linked dominant control of F-cells in normal adult life: characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. (2461753)
1988
24
Gamma gene promoter and enhancer structure in Seattle variant of hereditary persistence of fetal hemoglobin. (2451548)
1988
25
Mutations in the A gamma-globin promoter in hereditary persistence of fetal hemoglobin and delta beta zero-thalassemia. (2448807)
1987
26
One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population. (2443439)
1987
27
False elevation of hemoglobin A1 by hereditary persistence of fetal hemoglobin. (2448411)
1987
28
Hemoglobin C in association with hereditary persistence of fetal hemoglobin. (2438676)
1987
29
Point mutation associated with hereditary persistence of fetal hemoglobin decreases RNA polymerase III transcription upstream of the affected gamma-globin gene. (2431298)
1986
30
Differences between the levels of G gamma chain in the fetal hemoglobin in two types of hereditary persistence of fetal hemoglobin are linked with a variation in the DNA sequence. (2421710)
1986
31
The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene. (2430647)
1986
32
A mutation associated with elevated G gamma chain in sickle cell anemia and hereditary persistence of fetal hemoglobin. (2413470)
1985
33
Heterogeneity of molecular defects underlying hereditary persistence of fetal hemoglobin in Mediterranean area. (2413471)
1985
34
The microchromatographic estimation of fetal hemoglobin levels in hereditary persistence of fetal hemoglobin. (6204792)
1984
35
Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. (6202341)
1984
36
Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population. (6208955)
1984
37
Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. (6196781)
1983
38
The gamma-delta-beta-globin gene region in G gamma-beta +-hereditary persistence of fetal hemoglobin. (6174163)
1982
39
beta Thalassemia associated with increased HB F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to beta thalassemia in a southern Italian population. (6162827)
1981
40
Gene deletion in hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia. (6172870)
1980-1981
41
Sickle cell trait/hereditary persistence of fetal hemoglobin trait. Misdiagnosis as sickle cell anemia by newborn screening. (517474)
1979
42
The synthesis of fetal hemoglobin types in red blood cells and in BFU-E derived colonies from peripheral blood of patients with sickle cell anemia, beta+ - and delta beta-thalassemia, various forms of hereditary persistence of fetal hemoglobin, normal adults and newborn. (500369)
1979
43
Homozygotes for the hereditary persistence of fetal hemoglobin: the ratio of G gamma to A gamma chains and biosynthetic studies. (603615)
1977
44
The hereditary persistence of fetal hemoglobin syndromes: variations on the thalassemia theme. (994361)
1976
45
Absence of messenger RNA and gene DNA for beta-globin chains in hereditary persistence of fetal hemoglobin. (947544)
1976
46
A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait. (1174703)
1975
47
Evidence for multiple structural genes for the gamma-chain of human fetal hemoglobin in hereditary persistence of fetal hemoglobin. (5260154)
1969
48
The interaction of hereditary persistence of fetal hemoglobin and beta thalassemia. (5923089)
1966
49
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN IN GREECE. A STUDY AND A COMPARISON. (14214133)
1964
50
Hereditary persistence of fetal hemoglobin. A family study. (14401265)
1960

Variations for Hereditary Persistence of Fetal Hemoglobin

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hereditary Persistence of Fetal Hemoglobin:

1
id Gene Name Type Significance SNP ID Assembly Location
1HBG2NM_000184.2(HBG2): c.-255C> Gsingle nucleotide variantPathogenicrs35617911GRCh37Chr 11, 5276213: 5276213
2HBG2NM_000184.2(HBG2): c.-228T> Csingle nucleotide variantPathogenicrs63750654GRCh37Chr 11, 5276186: 5276186
3HBG2NM_000184.2(HBG2): c.-167C> Tsingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
4HBG2NM_000184.2(HBG2): c.-167C> Asingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
5HBG1NM_000559.2(HBG1): c.-170G> Asingle nucleotide variantPathogenicrs35378915GRCh37Chr 11, 5271204: 5271204
6HBG1NM_000559.2(HBG1): c.-251T> Csingle nucleotide variantPathogenicrs35710727GRCh37Chr 11, 5271285: 5271285
7HBG1NM_000559.2(HBG1): c.-53-196C> Tsingle nucleotide variantPathogenicrs35983258GRCh37Chr 11, 5271283: 5271283
8HBG1NM_000559.2(HBG1): c.-53-195C> Gsingle nucleotide variantPathogenicrs35321913GRCh37Chr 11, 5271282: 5271282
9HBG1NM_000559.2(HBG1): c.-167C> Tsingle nucleotide variantPathogenicrs281860601GRCh37Chr 11, 5271201: 5271201

Expression for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

Search GEO for disease gene expression data for Hereditary Persistence of Fetal Hemoglobin.

Pathways for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

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50PathCards, 55Reactome
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Compounds for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

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45Novoseek, 24HMDB, 11DrugBank, 3BitterDB, 51PharmGKB, 29IUPHAR
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Compounds related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1de-oxy4510.3HBG2, HBB
2s-nitrosocysteine4510.2HBG2, HBB
323-diphosphoglycerate4510.2HBB, HBG2
4aclacinomycin4510.2HBG1, GATA1
5dimethyl sulfate4510.2HBB, HBG1
6benzidine4510.1HBB, HBG1
7aclarubicin4510.1GATA1, HBG1
8propionate4510.0HBB, HBG1
9porphobilinogen45 24 1112.0GATA1, HBB, HBG1
105-aminolevulinic acid45 2411.0GATA1, HBB, HBG1
11azathioprine45 3 51 1112.9HBG1, HBB, GATA1
12hydroxyurea45 51 1111.7HBG1, HBG2, HBB, GATA1
13iron45 2410.6HBG1, HBG2, HBB, GATA1
14chloramphenicol45 3 51 1112.5GATA1, HBE1, HBB
15heme29 24 1111.5HBE1, HBB, HBG2, HBD, HBG1
16glyceraldehyde 3-phosphate459.2HBG1, HBB, POU2F1
17butyrate459.1GATA1, POU2F1, HBB, HBG1
18nitric oxide45 24 1110.9POU2F1, HBB, HBG2, HBG1
19zinc45 249.8GATA1, KLF1, POU2F1, HBB, HBG1
20oligonucleotide458.3HBB, POU2F1, CUX1, GATA1

GO Terms for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

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16Gene Ontology
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Cellular components related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.1HBD, HBG2, HBB, HBE1
2hemoglobin complexGO:0058339.0HBE1, HBB, HBG2, HBD, HBG1
3cytosolGO:0058298.6CUX1, HBE1, HBB, HBG2, HBD, HBG1

Biological processes related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterooligomerizationGO:0512919.9HBE1, HBB
2embryonic hemopoiesisGO:0351629.8KLF1, GATA1
3erythrocyte differentiationGO:0302189.6KLF1, GATA1
4blood coagulationGO:0075968.8GATA1, HBE1, HBB, HBG2, HBD, HBG1

Molecular functions related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:0009779.6CUX1, GATA1
2oxygen transporter activityGO:0053449.2HBD, HBE1, HBB, HBG2, HBG1
3oxygen bindingGO:0198259.1HBD, HBE1, HBG2, HBB, HBG1
4heme bindingGO:0200379.0HBE1, HBB, HBG2, HBD, HBG1
5iron ion bindingGO:0055068.8HBG1, HBD, HBG2, HBB, HBE1

Products for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Persistence of Fetal Hemoglobin

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet