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HBFQTL1
MCID: FTL033
MIFTS: 42

Fetal Hemoglobin Quantitative Trait Locus 1 (HBFQTL1)

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 70
Hereditary Persistence of Fetal Hemoglobin 57 6
Hereditary Persistence of Fetal Hemoglobin, Hb Gene Cluster-Related 57
Hereditary Persistence of Fetal Hemoglobin Thalassemia 70
Hemoglobin F, Hereditary Persistence of; Hpfh 57
Hemoglobin, Fetal, Quantitative Trait Locus 1 39
Hemoglobin F, Hereditary Persistence of 57
Delta Beta-Thalassemia 12
Delta-Beta-Thalassemia 58
Hbfqtl1 57
Hpfh 57

Characteristics:

Orphanet epidemiological data:

58
delta-beta-thalassemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
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: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0080773
OMIM® 57 141749
NCIt 50 C172823
ICD10 32 D56.2 D56.4
ICD10 via Orphanet 33 D56.2
UMLS via Orphanet 71 C0271985
Orphanet 58 ORPHA231237
MedGen 41 C1841621
SNOMED-CT via HPO 68 234349007 263681008
UMLS 70 C0271985 C0271994
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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) (Updated 05-Apr-2021)

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 acute erythroid leukemia. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include skin, and related phenotypes are microcytic anemia and abnormal hemoglobin

Disease Ontology : 12 A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.

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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 top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 31.4 HBG2 HBG1 HBB
2 acute erythroid leukemia 30.3 HBG1 HBB
3 thalassemia minor 30.3 LOC107133510 LOC106099062 HBD HBB
4 thalassemia 29.9 LOC110006319 LOC109951029 LOC107133510 LOC106099062 HBG1 HBD
5 splenic infarction 29.9 LOC107133510 LOC106099062 HBB
6 hemolytic anemia 29.8 LOC107133510 LOC106099062 HBG2 HBG1 HBB
7 beta-thalassemia intermedia 29.8 LOC110006319 LOC107133510 LOC106099062 HBB
8 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 29.7 LOC110006319 LOC107133510 LOC106099065 LOC106099064 LOC106099062 HBG2
9 beta-thalassemia major 29.6 LOC110006319 LOC107133510 LOC106099062 HBB
10 hemoglobin h disease 29.6 HBG2 HBG1 HBD HBB
11 beta-thalassemia 29.3 LOC110006319 LOC109951029 LOC107133510 LOC106099062 HBG2 HBG1
12 sickle cell disease 29.2 LOC110006319 LOC107133510 LOC106099062 HBG2 HBG1 HBD
13 sickle cell anemia 29.2 LOC110006319 LOC107133510 LOC106099062 HBG2 HBG1 HBB
14 deficiency anemia 29.1 LOC107133510 LOC106099062 HBG2 HBG1 HBB
15 hemoglobinopathy 28.8 LOC110006319 LOC107133510 LOC106099063 LOC106099062 HBG2 HBG1
16 alpha-thalassemia 28.0 LOC110006319 LOC107133510 LOC106099063 LOC106099062 HBG2 HBG1
17 intellectual developmental disorder with persistence of fetal hemoglobin 11.6
18 sickle delta beta thalassemia 11.4
19 fetal hemoglobin quantitative trait locus 5 10.9
20 fetal hemoglobin quantitative trait locus 2 10.9
21 fetal hemoglobin quantitative trait locus 3 10.9
22 fetal hemoglobin quantitative trait locus 6 10.7
23 neonatal anemia 10.2
24 hemoglobin lepore-beta-thalassemia syndrome 10.2 HBD HBB
25 middle lobe syndrome 10.2 HBD HBB
26 bilirubin metabolic disorder 10.1
27 thalassemia, beta+, silent allele 10.1
28 yemenite deaf-blind hypopigmentation syndrome 10.1
29 fetal hemoglobin quantitative trait locus 4 10.1
30 splenic sequestration 10.1
31 leukemia 10.1
32 color blindness 10.1
33 acute chest syndrome 10.1
34 placental abruption 10.1
35 color vision deficiency 10.1
36 hemoglobin e-beta-thalassemia syndrome 10.1 LOC107133510 LOC106099062 HBB
37 sickle cell disease and related diseases 10.1 LOC107133510 LOC106099062 HBB
38 hemoglobin zurich 10.1 LOC107133510 LOC106099062 HBB
39 neuropathy, hereditary sensory and autonomic, type iib 10.1 HBD HBB
40 aplastic anemia 10.0
41 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
42 pulmonary hypertension 10.0
43 hypochromic microcytic anemia 10.0
44 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 10.0
45 microcytic anemia 10.0
46 oligohydramnios 10.0
47 thrombocytopenia 10.0
48 iron metabolism disease 10.0
49 placenta disease 10.0
50 hypoglycemia 10.0

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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Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
3 anemia 58 Very frequent (99-80%)
4 persistence of hemoglobin f 31 HP:0011904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
persistence of fetal hemoglobin (5-30% hbf)

Clinical features from OMIM®:

141749 (Updated 05-Apr-2021)

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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:

40
Skin
Sources

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 193)
# Title Authors PMID Year
1
A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression. 6 57
28669403 2017
2
The Greek A gamma beta+-HPFH observed in a large black family. 57 6
2441598 1987
3
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. 6 57
2430647 1986
4
Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter. 6 57
2423160 1986
5
G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene. 6 57
6205403 1984
6
Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. 57 6
1186896 1975
7
A form of hereditary persistence of fetal haemoglobin characterized by uneven cellular distribution of haemoglobin F and the production of haemoglobins A and A2 in homozygotes. 57 6
811241 1975
8
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. 6 61
1487421 1992
9
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. 6 61
2452784 1988
10
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. 61 57
6196781 1983
11
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? 57 61
6179097 1982
12
A functional element necessary for fetal hemoglobin silencing. 57
21879898 2011
13
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. 57
21057501 2010
14
Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population. 6
19958185 2009
15
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. 57
18667698 2008
16
A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F. 6
18443038 2008
17
Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster. 57
16952470 2006
18
DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up. 57
12640388 2003
19
A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin. 6
10335983 1999
20
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. 57
9859924 1998
21
Molecular basis of hereditary persistence of fetal hemoglobin. 57
9668525 1998
22
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events. 6
9703422 1998
23
The molecular basis of HPFH in a British family identified by heteroduplex formation. 6
7687855 1993
24
Molecular characterisation of Vietnamese HPFH. 57
7689901 1993
25
A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin. 6
1379347 1992
26
The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene. 6
1704803 1991
27
trans-Activation of a globin promoter in nonerythroid cells. 6
1990287 1991
28
The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C----G substitution at nucleotide -195 of the A gamma-globin gene. 6
2224140 1990
29
Transcriptional activation and DNA binding by the erythroid factor GF-1/NF-E1/Eryf 1. 6
2276623 1990
30
A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. 6
1698280 1990
31
A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster. 57
2472351 1989
32
Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression. 57
2472742 1989
33
The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin. 6
2469505 1989
34
The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene. 6
3181130 1988
35
Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex. 57
2458313 1988
36
Four base-pair DNA deletion in human A gamma globin-gene promoter associated with low A gamma expression in adults. 6
3377986 1988
37
Gamma gene promoter and enhancer structure in Seattle variant of hereditary persistence of fetal hemoglobin. 57
2451548 1988
38
A fetal globin gene mutation in A gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell. 6
2451123 1988
39
One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population. 57
2443439 1987
40
The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. 6
3033668 1987
41
Molecular analysis of the high-hemoglobin-F phenotype in Saudi Arabian sickle cell anemia. 57
2432426 1987
42
Point mutation associated with hereditary persistence of fetal hemoglobin decreases RNA polymerase III transcription upstream of the affected gamma-globin gene. 57
2431298 1986
43
Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks. 6
2417646 1986
44
A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. 57
2578620 1985
45
G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin. 57
2578619 1985
46
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. 6
6208955 1984
47
Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the beta-globin gene cluster. 57
6207872 1984
48
Increased HbF in sickle cell anemia is determined by a factor linked to the beta S gene from one parent. 57
6197115 1984
49
Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster. 57
6201431 1984
50
Restriction endonuclease mapping of gamma-delta-beta-globin region in G gamma (beta)+ HPFH and a Chinese A gamma HPFH variant. 57
6192712 1983
Sources

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 top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-167C>T SNV Pathogenic 14990 rs34809449 GRCh37: 11:5276125-5276125
GRCh38: 11:5254895-5254895
2 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-167C>A SNV Pathogenic 15001 rs34809449 GRCh37: 11:5276125-5276125
GRCh38: 11:5254895-5254895
3 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-170G>A SNV Pathogenic 15030 rs35378915 GRCh37: 11:5271204-5271204
GRCh38: 11:5249974-5249974
4 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-53-198T>C SNV Pathogenic 15031 rs35710727 GRCh37: 11:5271285-5271285
GRCh38: 11:5250055-5250055
5 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-53-196C>T SNV Pathogenic 15033 rs35983258 GRCh37: 11:5271283-5271283
GRCh38: 11:5250053-5250053
6 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-53-195C>G SNV Pathogenic 15034 rs35321913 GRCh37: 11:5271282-5271282
GRCh38: 11:5250052-5250052
7 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-167C>T SNV Pathogenic 15035 rs281860601 GRCh37: 11:5271201-5271201
GRCh38: 11:5249971-5249971
8 HBG1 HBG1, C-T, -158 SNV Pathogenic 15040 GRCh37:
GRCh38:
9 HBG2 HBG2, T-G, -567 SNV Pathogenic 29754 GRCh37:
GRCh38:
10 HBB HBB, 106-KB DEL Deletion Pathogenic 29751 GRCh37:
GRCh38:
11 HBB HBB, 106-KB DEL Deletion Pathogenic 29751 GRCh37:
GRCh38:
12 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-255C>G SNV Pathogenic 14982 rs35617911 GRCh37: 11:5276213-5276213
GRCh38: 11:5254983-5254983
13 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
14 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
15 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
16 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
17 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
18 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
19 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
20 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
21 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
22 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
23 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-228T>C SNV Pathogenic 14983 rs63750654 GRCh37: 11:5276186-5276186
GRCh38: 11:5254956-5254956
24 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
25 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
26 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) Deletion Pathogenic 15417 rs80356821 GRCh37: 11:5247993-5247996
GRCh38: 11:5226763-5226766
27 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
28 LOC106099064 , HBG1 NM_000559.3(HBG1):c.-29G>A SNV Pathogenic 1048099 rs368698783 GRCh37: 11:5271063-5271063
GRCh38: 11:5249833-5249833
29 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely pathogenic 393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159
30 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-211C>T SNV Uncertain significance 14984 rs7482144 GRCh37: 11:5276169-5276169
GRCh38: 11:5254939-5254939
31 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*53C>A SNV Uncertain significance 305001 rs886048393 GRCh37: 11:5246775-5246775
GRCh38: 11:5225545-5225545
32 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*56A>T SNV Uncertain significance 305000 rs537944366 GRCh37: 11:5246772-5246772
GRCh38: 11:5225542-5225542
33 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.274C>T (p.Leu92=) SNV Uncertain significance 439144 rs769583496 GRCh37: 11:5247848-5247848
GRCh38: 11:5226618-5226618
34 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*59A>G SNV Uncertain significance 878836 GRCh37: 11:5246769-5246769
GRCh38: 11:5225539-5225539
35 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.246C>A (p.Leu82=) SNV Uncertain significance 439778 rs145669504 GRCh37: 11:5247876-5247876
GRCh38: 11:5226646-5226646
36 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*18C>A SNV Uncertain significance 879417 GRCh37: 11:5246810-5246810
GRCh38: 11:5225580-5225580
37 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.85C>T (p.Leu29=) SNV Uncertain significance 879840 GRCh37: 11:5248167-5248167
GRCh38: 11:5226937-5226937
38 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.364G>C (p.Glu122Gln) SNV Uncertain significance 15152 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
39 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.324C>T (p.Gly108=) SNV Uncertain significance 36322 rs193922562 GRCh37: 11:5246948-5246948
GRCh38: 11:5225718-5225718
40 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.294C>T (p.His98=) SNV Uncertain significance 439783 rs34515413 GRCh37: 11:5247828-5247828
GRCh38: 11:5226598-5226598
41 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.-31C>T SNV Uncertain significance 36291 rs63750628 GRCh37: 11:5248282-5248282
GRCh38: 11:5227052-5227052
42 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.208G>A (p.Gly70Ser) SNV Uncertain significance 15138 rs33947415 GRCh37: 11:5247914-5247914
GRCh38: 11:5226684-5226684
43 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Uncertain significance 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
44 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.402G>C (p.Val134=) SNV Uncertain significance 36327 rs113082294 GRCh37: 11:5246870-5246870
GRCh38: 11:5225640-5225640
45 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.34G>A (p.Val12Ile) SNV Uncertain significance 15189 rs33974228 GRCh37: 11:5248218-5248218
GRCh38: 11:5226988-5226988
46 HBD NM_000519.4(HBD):c.*91G>A SNV Uncertain significance 305002 rs886048394 GRCh37: 11:5254103-5254103
GRCh38: 11:5232873-5232873
47 HBD , LOC109951029 NM_000519.3(HBD):c.-180A>G SNV Uncertain significance 305008 rs186432678 GRCh37: 11:5255843-5255843
GRCh38: 11:5234613-5234613
48 LOC106099063 , HBD NM_000519.4(HBD):c.76G>A (p.Gly26Ser) SNV Uncertain significance 305005 rs886048395 GRCh37: 11:5255588-5255588
GRCh38: 11:5234358-5234358
49 HBD , LOC109951029 NM_000519.3(HBD):c.-60A>T SNV Uncertain significance 305006 rs112372029 GRCh37: 11:5255723-5255723
GRCh38: 11:5234493-5234493
50 HBD NM_000519.4(HBD):c.*59C>G SNV Uncertain significance 305003 rs755421119 GRCh37: 11:5254135-5254135
GRCh38: 11:5232905-5232905
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.
Sources

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
Factors involved in megakaryocyte development and platelet production 65
11.12 HBG2 HBG1 HBD HBB
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 HBG2 HBD HBB
2 hemoglobin complex GO:0005833 9.26 HBG2 HBG1 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.92 HBG2 HBG1 HBD HBB

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 9.56 HBG2 HBG1 HBD HBB
2 cellular oxidant detoxification GO:0098869 9.46 HBG2 HBG1 HBD HBB
3 hydrogen peroxide catabolic process GO:0042744 9.26 HBG2 HBG1 HBD HBB
4 oxygen transport GO:0015671 8.92 HBG2 HBG1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.71 HBG2 HBG1 HBD HBB
2 peroxidase activity GO:0004601 9.67 HBG2 HBG1 HBD HBB
3 oxygen binding GO:0019825 9.62 HBG2 HBG1 HBD HBB
4 oxygen carrier activity GO:0005344 9.56 HBG2 HBG1 HBD HBB
5 organic acid binding GO:0043177 9.46 HBG2 HBG1 HBD HBB
6 haptoglobin binding GO:0031720 9.26 HBG2 HBG1 HBD HBB
7 hemoglobin alpha binding GO:0031721 8.92 HBG2 HBG1 HBD HBB
Sources

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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