MCID: FTL033
MIFTS: 36

Fetal Hemoglobin Quantitative Trait Locus 1

Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 57 29 6
Delta-Beta Thalassemia 57 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
Delta/beta Thalassemia 6
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:



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

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

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 beta-thalassemia. 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. Related phenotypes are microcytic anemia and abnormal hemoglobin

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

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 31)
# Related Disease Score Top Affiliating Genes
1 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 30.4 HBB HBG1 HBG2
2 beta-thalassemia 30.3 HBB HBD HBG1 HBG2
3 thalassemia 29.4 HBB HBD HBG1
4 sickle cell anemia 28.3 HBB HBG1 HBG2
5 sickle delta beta thalassemia 12.3
6 fetal hemoglobin quantitative trait locus 5 10.9
7 fetal hemoglobin quantitative trait locus 2 10.9
8 fetal hemoglobin quantitative trait locus 6 10.3
9 neonatal anemia 10.0
10 placenta disease 9.9
11 hemoglobin lepore-beta-thalassemia syndrome 9.8 HBB HBD
12 hemoglobin d disease 9.7 HBB HBD
13 malignant secondary hypertension 9.7 HBB HBD
14 hemoglobin e disease 9.7 HBB HBD
15 hemoglobin c disease 9.6 HBB HBD
16 osgood-schlatter's disease 9.6 HBB HBD
17 kluver-bucy syndrome 9.6 HBB HBD
18 glucosephosphate dehydrogenase deficiency 9.6 HBB HBG2
19 malignant essential hypertension 9.6 HBB HBD
20 pleuropneumonia 9.5 HBB HBD
21 hemoglobin h disease 9.4 HBB HBD
22 acute erythroid leukemia 9.4 HBB HBG1
23 hereditary spherocytosis 9.2 HBB HBG1
24 deficiency anemia 9.2 HBB HBG2
25 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 9.0 HBB HBG1 HBG2
26 hemoglobinopathy 9.0 HBB HBD HBG1
27 congenital hemolytic anemia 9.0 HBB HBD HBG1
28 hemolytic anemia 9.0 HBB HBG2
29 autosomal genetic disease 9.0 HBB HBD HBG1
30 alpha-thalassemia 9.0 HBB HBG1 HBG2
31 sickle cell disease 8.4 HBB HBD HBG1 HBG2

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



Diseases related to Fetal Hemoglobin Quantitative Trait Locus 1

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 1

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

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

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

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

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

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

Publications for Fetal Hemoglobin Quantitative Trait Locus 1

Articles related to Fetal Hemoglobin Quantitative Trait Locus 1:

(show all 29)
# Title Authors Year
1
Epsilon gamma delta beta thalassemia: A rare cause of fetal and neonatal anemia. ( 29162270 )
2017
2
Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F. ( 27134860 )
2016
3
Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing. ( 25488195 )
2015
4
Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a case report. ( 25386442 )
2014
5
Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin. ( 24575268 )
2013
6
A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia. ( 23206178 )
2013
7
A novel epsilon gamma delta beta thalassemia of 1.4 Mb deletion found in a Japanese patient. ( 17712794 )
2008
8
Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. ( 18932066 )
2008
9
A de novo deletion causing epsilon gamma delta beta-thalassemia in a Dutch patient. ( 8701697 )
1996
10
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
11
Delta beta-thalassemia in an African-American: identification of the deletion endpoints and PCR-based diagnosis. ( 7713743 )
1994
12
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. ( 7510147 )
1994
13
The in vivo expression of the globin genes of the beta cistron in gamma-, delta-, and delta beta-thalassemia heterozygotes. ( 8125176 )
1994
14
Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction. ( 8427978 )
1993
15
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. ( 1487421 )
1992
16
Delta beta thalassemia and hereditary persistence of fetal hemoglobin. ( 1713909 )
1991
17
Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level. ( 1688506 )
1990
18
Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome. ( 1691668 )
1990
19
Beta-, delta beta-thalassemia and Hb lepore among Yugoslav, Bulgarian, Turkish and Albanian. ( 2086380 )
1990
20
Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites. ( 2798417 )
1989
21
The inactive beta globin gene on a gamma delta beta thalassemia chromosome has a normal structure and functions normally in vitro. ( 3345345 )
1988
22
Molecular analysis of Japanese delta beta-thalassemia. ( 3179447 )
1988
23
A novel basis for delta beta-thalassemia in a Chinese family. ( 2876738 )
1986
24
A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. ( 2997283 )
1985
25
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
26
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
27
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? ( 6179097 )
1982
28
Gene deletion in hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia. ( 6172870 )
1980
29
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

Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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

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

Expression for Fetal Hemoglobin Quantitative Trait Locus 1

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

Pathways for Fetal Hemoglobin Quantitative Trait Locus 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 HBB HBD HBG1 HBG2
2 11.65 HBB HBG1
3 11.12 HBB HBD HBG1 HBG2

GO Terms for Fetal Hemoglobin Quantitative Trait Locus 1

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 9.13 HBB HBD HBG2
2 hemoglobin complex GO:0005833 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 9.26 HBB HBD HBG1 HBG2
2 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 9.62 HBB HBD HBG1 HBG2
2 iron ion binding GO:0005506 9.56 HBB HBD HBG1 HBG2
3 heme binding GO:0020037 9.46 HBB HBD HBG1 HBG2
4 oxygen binding GO:0019825 9.26 HBB HBD HBG1 HBG2
5 oxygen carrier activity GO:0005344 8.92 HBB HBD HBG1 HBG2

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

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
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