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HPFH
MCID: FTL033
MIFTS: 41

Fetal Hemoglobin Quantitative Trait Locus 1 (HPFH)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

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MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 57 29 6
Delta-Beta Thalassemia 57 29 13 6 73
Hereditary Persistence of Fetal Hemoglobin, Hb Gene Cluster-Related 57
Hereditary Persistence of Fetal Hemoglobin Thalassemia 73
Hemoglobin F, Hereditary Persistence of; Hpfh 57
Hemoglobin, Fetal, Quantitative Trait Locus 1 40
Hereditary Persistence of Fetal Hemoglobin 57
Hemoglobin F, Hereditary Persistence of 57
Delta-Beta-Thalassemia 59
Hbfqtl1 57
Hpfh 57

Characteristics:

Orphanet epidemiological data:

59
delta-beta-thalassemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
fetal hemoglobin quantitative trait locus 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34 33
Orphanet: 59  
Rare haematological diseases


External Ids:

OMIM 57 141749
Orphanet 59 ORPHA231237
UMLS via Orphanet 74 C0271985
ICD10 via Orphanet 34 D56.2
MedGen 42 C1841621
ICD10 33 D56.2 D56.4
SNOMED-CT via HPO 69 263681008 234349007
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Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

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OMIM : 57 Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB; 141900) or delta- (HBD; 142000) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells (Thein and Craig, 1998). Delta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH (Ottolenghi et al., 1982; Forget, 1998). Forget (1998) noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum. Approximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci (Thein and Craig, 1998). (141749)

MalaCards based summary : Fetal Hemoglobin Quantitative Trait Locus 1, also known as delta-beta thalassemia, is related to hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome and hereditary persistence of fetal hemoglobin-sickle cell disease syndrome. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBG1 (Hemoglobin Subunit Gamma 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Glucose / Energy Metabolism. Affiliated tissues include placenta, and related phenotypes are microcytic anemia and abnormal hemoglobin

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Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

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Diseases in the Fetal Hemoglobin Quantitative Trait Locus 1 family:

Fetal Hemoglobin Quantitative Trait Locus 5 Fetal Hemoglobin Quantitative Trait Locus 2
Fetal Hemoglobin Quantitative Trait Locus 3 Fetal Hemoglobin Quantitative Trait Locus 4
Fetal Hemoglobin Quantitative Trait Locus 6

Diseases related to Fetal Hemoglobin Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 31.7 HBG2 HBG1 HBB
2 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 31.1 HBG2 HBG1 HBB
3 thalassemia 30.4 HBG1 HBD HBB
4 beta-thalassemia 30.0 HBG2 HBG1 HBD HBB
5 sickle cell anemia 29.9 HBG2 HBG1 HBB
6 alpha-thalassemia 29.5 HBG2 HBG1 HBB
7 sickle cell disease 29.3 HBG2 HBG1 HBD HBB
8 sickle delta beta thalassemia 12.6
9 intellectual developmental disorder with persistence of fetal hemoglobin 11.6
10 fetal hemoglobin quantitative trait locus 5 11.1
11 fetal hemoglobin quantitative trait locus 2 11.1
12 fetal hemoglobin quantitative trait locus 3 11.1
13 fetal hemoglobin quantitative trait locus 6 10.5
14 neonatal anemia 10.1
15 splenic infarction 10.0
16 albinism 10.0
17 placenta disease 10.0
18 hemoglobin lepore-beta-thalassemia syndrome 9.9 HBD HBB
19 hemolytic anemia 9.9 HBG2 HBB
20 hemoglobin d disease 9.9 HBD HBB
21 malignant secondary hypertension 9.9 HBD HBB
22 hemoglobin c disease 9.9 HBD HBB
23 hemoglobin e disease 9.9 HBD HBB
24 osgood-schlatter's disease 9.9 HBD HBB
25 kluver-bucy syndrome 9.9 HBD HBB
26 malignant essential hypertension 9.9 HBD HBB
27 glucosephosphate dehydrogenase deficiency 9.9 HBG2 HBB
28 blind loop syndrome 9.8 HBD HBB
29 pleuropneumonia 9.8 HBD HBB
30 erythroleukemia, familial 9.8 HBG1 HBB
31 methemoglobinemia 9.8 HBG2 HBB
32 alpha thalassemia-intellectual disability syndrome type 1 9.8 HBD HBB
33 hemoglobin h disease 9.7 HBG2 HBD HBB
34 hereditary spherocytosis 9.7 HBG1 HBB
35 hemoglobinopathy 9.7 HBG1 HBD HBB
36 congenital hemolytic anemia 9.7 HBG1 HBD HBB
37 deficiency anemia 9.7 HBG2 HBB
38 autosomal genetic disease 9.7 HBG1 HBD HBB
39 blood protein disease 9.5 HBG2 HBG1 HBD HBB

Graphical network of the top 20 diseases related to Fetal Hemoglobin Quantitative Trait Locus 1:



Diseases related to Fetal Hemoglobin Quantitative Trait Locus 1
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Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 1

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Symptoms via clinical synopsis from OMIM:

57
Hematology:
persistence of fetal hemoglobin (5-30% hbf)


Clinical features from OMIM:

141749

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
3 anemia 59 Very frequent (99-80%)
4 persistence of hemoglobin f 32 HP:0011904
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Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

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Search Clinical Trials , NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 1

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Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

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Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 1 29 HBB HBG1 HBG2
2 Delta-Beta Thalassemia 29
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Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

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MalaCards organs/tissues related to Fetal Hemoglobin Quantitative Trait Locus 1:

41
Placenta
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Publications for Fetal Hemoglobin Quantitative Trait Locus 1

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Articles related to Fetal Hemoglobin Quantitative Trait Locus 1:

(show top 50) (show all 54)
# Title Authors Year
1
Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India. ( 29621931 )
2018
2
Epsilon gamma delta beta thalassemia: A rare cause of fetal and neonatal anemia. ( 29162270 )
2018
3
Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F. ( 27134860 )
2016
4
Delta beta thalassemia: a rare hemoglobin variant. ( 27722137 )
2016
5
Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing. ( 25488195 )
2015
6
Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a case report. ( 25386442 )
2014
7
Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin. ( 24575268 )
2013
8
A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia. ( 23206178 )
2013
9
A novel epsilon gamma delta beta thalassemia of 1.4 Mb deletion found in a Japanese patient. ( 17712794 )
2008
10
Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. ( 18932066 )
2008
11
A de novo deletion causing epsilon gamma delta beta-thalassemia in a Dutch patient. ( 8701697 )
1996
12
Association of Hb S/Hb lepore and delta beta-thalassemia/Hb lepore in Sicilian patients: review of the presence of Hb lepore in Sicily. ( 7543057 )
1995
13
Delta beta-thalassemia in an African-American: identification of the deletion endpoints and PCR-based diagnosis. ( 7713743 )
1994
14
A novel Mediterranean "delta beta-thalassemia" determinant containing the delta (+) 27 and beta (0) 39 point mutations in cis. ( 7504402 )
1994
15
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. ( 7510147 )
1994
16
The in vivo expression of the globin genes of the beta cistron in gamma-, delta-, and delta beta-thalassemia heterozygotes. ( 8125176 )
1994
17
Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction. ( 8427978 )
1993
18
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. ( 1487421 )
1992
19
Delta beta thalassemia and hereditary persistence of fetal hemoglobin. ( 1713909 )
1991
20
Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level. ( 1688506 )
1990
21
Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome. ( 1691668 )
1990
22
Beta-, delta beta-thalassemia and Hb lepore among Yugoslav, Bulgarian, Turkish and Albanian. ( 2086380 )
1990
23
Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites. ( 2798417 )
1989
24
The inactive beta globin gene on a gamma delta beta thalassemia chromosome has a normal structure and functions normally in vitro. ( 3345345 )
1988
25
Molecular analysis of Japanese delta beta-thalassemia. ( 3179447 )
1988
26
Two new large deletions resulting in epsilon gamma delta beta-thalassemia. ( 3138875 )
1988
27
The beta-globin gene on the Chinese delta beta-thalassemia chromosome carries a promoter mutation. ( 2822174 )
1987
28
Elevated RDW in delta beta thalassemia. ( 3588020 )
1987
29
A novel basis for delta beta-thalassemia in a Chinese family. ( 2876738 )
1986
30
Molecular characterization and hematological phenotype of Sicilian delta beta-thalassemia . ( 2430864 )
1986
31
The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes. ( 2875756 )
1986
32
A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. ( 2997283 )
1985
33
Clinical and molecular heterogeneity of delta, beta-thalassemia in Sicily. ( 2409867 )
1985
34
Heterogeneity of delta, beta-thalassemia and hereditary persistence of Hb F in the Mediterranean area. ( 2409869 )
1985
35
A novel deletion in delta beta-thalassemia found in Japan. ( 2982369 )
1985
36
Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia. ( 6629826 )
1983
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
Unusual combination of genetic defects in a Sicilian boy: G gamma delta beta thalassemia, G gamma A gamma heterocellular HPFH, beta (0) thalassemia, and albinism. ( 6192718 )
1983
39
Erythroleukemia manifesting delta beta-thalassemia. ( 6188718 )
1983
40
Spanish delta-beta-thalassemia: hematological studies and composition of the gamma-chains in ten homozygous patients. ( 6194643 )
1983
41
The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia. ( 6839025 )
1983
42
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? ( 6179097 )
1982
43
Gamma-chain heterogeneity of fetal hemoglobin in nonblack beta- and delta beta- thalassemia and HPFH heterozygotes and homozygotes. ( 6180635 )
1982
44
High Hb F levels in a Sardinian family: a genetic defect intermediate between HPFH Greek type and delta beta-thalassemia? ( 6183172 )
1982
45
delta beta-Thalassemia and HPFH. ( 6186314 )
1982
46
Heterogeneity of DNA deletion in gamma delta beta-thalassemia. ( 6162860 )
1981
47
Delta-beta thalassemia in 36 cases from 14 families. ( 7239607 )
1981
48
Sickle-delta beta thalassemia: mild sickling disorder with serious morbidity in pregnancy. ( 7243140 )
1981
49
Gene deletion in hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia. ( 6172870 )
1980
50
Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia. ( 468997 )
1979
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Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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ClinVar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 1:

6 (show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBG1 NM_000559.2(HBG1): c.-170G> A single nucleotide variant Pathogenic rs35378915 GRCh37 Chromosome 11, 5271204: 5271204
2 HBG2 NM_000184.2(HBG2): c.-255C> G single nucleotide variant Pathogenic rs35617911 GRCh37 Chromosome 11, 5276213: 5276213
3 HBG2 NM_000184.2(HBG2): c.-255C> G single nucleotide variant Pathogenic rs35617911 GRCh38 Chromosome 11, 5254983: 5254983
4 HBG2 NM_000184.2(HBG2): c.-228T> C single nucleotide variant Pathogenic rs63750654 GRCh37 Chromosome 11, 5276186: 5276186
5 HBG2 NM_000184.2(HBG2): c.-228T> C single nucleotide variant Pathogenic rs63750654 GRCh38 Chromosome 11, 5254956: 5254956
6 HBG2 NM_000184.2(HBG2): c.-211C> T single nucleotide variant Uncertain significance rs7482144 GRCh37 Chromosome 11, 5276169: 5276169
7 HBG2 NM_000184.2(HBG2): c.-211C> T single nucleotide variant Uncertain significance rs7482144 GRCh38 Chromosome 11, 5254939: 5254939
8 HBG2 NM_000184.2(HBG2): c.-167C> T single nucleotide variant Pathogenic rs34809449 GRCh37 Chromosome 11, 5276125: 5276125
9 HBG2 NM_000184.2(HBG2): c.-167C> T single nucleotide variant Pathogenic rs34809449 GRCh38 Chromosome 11, 5254895: 5254895
10 HBG2 NM_000184.2(HBG2): c.-167C> A single nucleotide variant Pathogenic rs34809449 GRCh37 Chromosome 11, 5276125: 5276125
11 HBG2 NM_000184.2(HBG2): c.-167C> A single nucleotide variant Pathogenic rs34809449 GRCh38 Chromosome 11, 5254895: 5254895
12 HBG1 NM_000559.2(HBG1): c.-170G> A single nucleotide variant Pathogenic rs35378915 GRCh38 Chromosome 11, 5249974: 5249974
13 HBG1 NM_000559.2(HBG1): c.-251T> C single nucleotide variant Pathogenic rs35710727 GRCh37 Chromosome 11, 5271285: 5271285
14 HBG1 NM_000559.2(HBG1): c.-251T> C single nucleotide variant Pathogenic rs35710727 GRCh38 Chromosome 11, 5250055: 5250055
15 HBG1 NM_000559.2(HBG1): c.-53-196C> T single nucleotide variant Pathogenic rs35983258 GRCh37 Chromosome 11, 5271283: 5271283
16 HBG1 NM_000559.2(HBG1): c.-53-196C> T single nucleotide variant Pathogenic rs35983258 GRCh38 Chromosome 11, 5250053: 5250053
17 HBG1 NM_000559.2(HBG1): c.-53-195C> G single nucleotide variant Pathogenic rs35321913 GRCh37 Chromosome 11, 5271282: 5271282
18 HBG1 NM_000559.2(HBG1): c.-53-195C> G single nucleotide variant Pathogenic rs35321913 GRCh38 Chromosome 11, 5250052: 5250052
19 HBG1 NM_000559.2(HBG1): c.-167C> T single nucleotide variant Pathogenic rs281860601 GRCh37 Chromosome 11, 5271201: 5271201
20 HBG1 NM_000559.2(HBG1): c.-167C> T single nucleotide variant Pathogenic rs281860601 GRCh38 Chromosome 11, 5249971: 5249971
21 HBG1 HBG1, C-T, -158 single nucleotide variant Pathogenic
22 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh37 Chromosome 11, 5247914: 5247914
23 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh38 Chromosome 11, 5226684: 5226684
24 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
25 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
26 HBB HBB, 106-KB DEL deletion Pathogenic
27 HBG2 HBG2, T-G, -567 single nucleotide variant Pathogenic
28 HBB NM_000518.4(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 GRCh37 Chromosome 11, 5248243: 5248243
29 HBB NM_000518.4(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 GRCh38 Chromosome 11, 5227013: 5227013
30 HBD NM_000519.3(HBD): c.76G> A (p.Gly26Ser) single nucleotide variant Uncertain significance rs886048395 GRCh37 Chromosome 11, 5255588: 5255588
31 HBD NM_000519.3(HBD): c.76G> A (p.Gly26Ser) single nucleotide variant Uncertain significance rs886048395 GRCh38 Chromosome 11, 5234358: 5234358
32 HBD NM_000519.3(HBD): c.-180A> G single nucleotide variant Uncertain significance rs186432678 GRCh37 Chromosome 11, 5255843: 5255843
33 HBD NM_000519.3(HBD): c.-180A> G single nucleotide variant Uncertain significance rs186432678 GRCh38 Chromosome 11, 5234613: 5234613
34 HBB NM_000518.4(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 GRCh37 Chromosome 11, 5246772: 5246772
35 HBB NM_000518.4(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 GRCh38 Chromosome 11, 5225542: 5225542
36 HBD NM_000519.3(HBD): c.*59C> G single nucleotide variant Uncertain significance rs755421119 GRCh37 Chromosome 11, 5254135: 5254135
37 HBD NM_000519.3(HBD): c.*59C> G single nucleotide variant Uncertain significance rs755421119 GRCh38 Chromosome 11, 5232905: 5232905
38 HBD NM_000519.3(HBD): c.225C> T (p.Gly75=) single nucleotide variant Uncertain significance rs113727122 GRCh37 Chromosome 11, 5255311: 5255311
39 HBD NM_000519.3(HBD): c.225C> T (p.Gly75=) single nucleotide variant Uncertain significance rs113727122 GRCh38 Chromosome 11, 5234081: 5234081
40 HBD NM_000519.3(HBD): c.-60A> T single nucleotide variant Uncertain significance rs112372029 GRCh37 Chromosome 11, 5255723: 5255723
41 HBD NM_000519.3(HBD): c.-60A> T single nucleotide variant Uncertain significance rs112372029 GRCh38 Chromosome 11, 5234493: 5234493
42 HBB NM_000518.4(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 GRCh37 Chromosome 11, 5246775: 5246775
43 HBB NM_000518.4(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 GRCh38 Chromosome 11, 5225545: 5225545
44 HBD NM_000519.3(HBD): c.*91G> A single nucleotide variant Uncertain significance rs886048394 GRCh37 Chromosome 11, 5254103: 5254103
45 HBD NM_000519.3(HBD): c.*91G> A single nucleotide variant Uncertain significance rs886048394 GRCh38 Chromosome 11, 5232873: 5232873
46 HBD NM_000519.3(HBD): c.-62C> T single nucleotide variant Uncertain significance rs144322869 GRCh37 Chromosome 11, 5255725: 5255725
47 HBD NM_000519.3(HBD): c.-62C> T single nucleotide variant Uncertain significance rs144322869 GRCh38 Chromosome 11, 5234495: 5234495
Sources

Expression for Fetal Hemoglobin Quantitative Trait Locus 1

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Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 1.
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Pathways for Fetal Hemoglobin Quantitative Trait Locus 1

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Pathways related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.33 HBB HBD HBG1 HBG2
2
Glucose / Energy Metabolism 4
11.65 HBB HBG1
3
Factors involved in megakaryocyte development and platelet production 66
11.12 HBB HBD HBG1 HBG2
Sources

GO Terms for Fetal Hemoglobin Quantitative Trait Locus 1

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Cellular components related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.33 HBB HBD HBG2
2 hemoglobin complex GO:0005833 9.26 HBB HBD HBG1 HBG2
3 haptoglobin-hemoglobin complex GO:0031838 8.92 HBB HBD HBG1 HBG2

Biological processes related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.62 HBB HBD HBG1 HBG2
2 cellular oxidant detoxification GO:0098869 9.56 HBB HBD HBG1 HBG2
3 protein heterooligomerization GO:0051291 9.46 HBB HBD HBG1 HBG2
4 hydrogen peroxide catabolic process GO:0042744 9.26 HBB HBD HBG1 HBG2
5 oxygen transport GO:0015671 8.92 HBB HBD HBG1 HBG2

Molecular functions related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.73 HBB HBD HBG1 HBG2
2 heme binding GO:0020037 9.67 HBB HBD HBG1 HBG2
3 oxygen binding GO:0019825 9.62 HBB HBD HBG1 HBG2
4 peroxidase activity GO:0004601 9.56 HBB HBD HBG1 HBG2
5 oxygen carrier activity GO:0005344 9.46 HBB HBD HBG1 HBG2
6 hemoglobin alpha binding GO:0031721 9.4 HBB HBD
7 organic acid binding GO:0043177 9.26 HBB HBD HBG1 HBG2
8 haptoglobin binding GO:0031720 8.92 HBB HBD HBG1 HBG2
Sources

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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