MCID: FTL033
MIFTS: 33

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 54 24 29
Delta-Beta Thalassemia 54 13 69
Hereditary Persistence of Fetal Hemoglobin 54 24
Hemoglobin F, Heredtary Persistence of; Hpfh Hereditary Persistence of Fetal Hemoglobin, Hb Gene Cluster-Related 24
Hereditary Persistence of Fetal Hemoglobin Thalassemia 69
Hereditary Persistence of Hemoglobin F 24
Delta-Beta-Thalassemia 56
Hpfh 24

Characteristics:

Orphanet epidemiological data:

56
delta-beta-thalassemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 54 141749
Orphanet 56 ORPHA231237
UMLS via Orphanet 70 C0271985
ICD10 via Orphanet 34 D56.2
ICD10 33 D56.2 D56.4
SNOMED-CT via HPO 65 263681008 234349007

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

OMIM : 54
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 sickle cell anemia and sickle delta beta thalassemia, and has symptoms including microcytic anemia, abnormal hemoglobin and anemia. 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 Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

Diseases in the Fetal Hemoglobin Quantitative Trait Locus 1 family:

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

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 sickle cell anemia 28.1 HBB HBD HBG1 HBG2
2 sickle delta beta thalassemia 12.2
3 hereditary persistence of fetal hemoglobin, klf1-related 12.2
4 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 12.2
5 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 12.2
6 thalassemia, hispanic gamma-delta-beta 11.5
7 dias-logan syndrome 11.2
8 fetal hemoglobin quantitative trait locus 2 11.0
9 thalassemia 10.6
10 adult-onset distal myopathy due to vcp mutation 10.0 HBB HBD
11 bartholin's gland adenoma 10.0 HBB HBD
12 hepatic infarction 10.0 HBB HBD
13 glucosephosphate dehydrogenase deficiency 10.0 HBB HBD
14 bile duct cystadenoma 9.9 HBB HBD
15 central epithelioid sarcoma 9.9 HBB HBD
16 intracranial structure hemangioma 9.9 HBB HBD
17 voyeurism 9.9 HBB HBD
18 thalassemia intermedia 9.8
19 conjunctivitis 9.8
20 delta-thalassemia 9.8
21 acute leukemia 9.8 HBB HBG1
22 mixed malaria 9.7 HBB HBD
23 heinz body anemia 9.5 HBB HBD HBG1
24 endometrial adenocarcinoma 9.5 HBB HBD HBG1
25 nodular degeneration of cornea 9.5 HBB HBG2
26 adult malignant mesenchymoma 9.5 HBB HBD HBG1
27 hemoglobin h disease, nondeletional 9.5 HBB HBD HBG1
28 lymphoplasmacytic lymphoma 9.5 HBB HBD HBG1
29 tongue squamous cell carcinoma 9.5 HBB HBD HBG1
30 vagus nerve neoplasm 9.4 HBB HBG1
31 tendinosis 9.4 HBB HBG2
32 premature menopause 9.3 HBB HBG2
33 hepatitis b reinfection following liver transplantation 9.3 HBB HBG1 HBG2
34 unclassified vasculitis 9.2 HBB HBG1 HBG2
35 thalassemia-beta, dominant inclusion-body 9.2 HBB HBG1 HBG2
36 cyanosis, transient neonatal 8.7 HBB HBD HBG1 HBG2
37 spastic paraplegia 8 8.7 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:

54

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


Clinical features from OMIM:

141749

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 56 32 hallmark (90%) Very frequent (99-80%) HP:0011902
3 anemia 56 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:

id Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 1 29 24 HBG1 HBG2
2 Hereditary Persistence of Fetal Hemoglobin 24 HBB HBG1 HBG2

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

Publications for Fetal Hemoglobin Quantitative Trait Locus 1

Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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

6 (show all 13)
id 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.-228T> C single nucleotide variant Pathogenic rs63750654 GRCh37 Chromosome 11, 5276186: 5276186
3 HBG2 NM_000184.2(HBG2): c.-167C> T single nucleotide variant Pathogenic rs34809449 GRCh37 Chromosome 11, 5276125: 5276125
4 HBG2 NM_000184.2(HBG2): c.-167C> A single nucleotide variant Pathogenic rs34809449 GRCh37 Chromosome 11, 5276125: 5276125
5 HBG1 NM_000559.2(HBG1): c.-170G> A single nucleotide variant Pathogenic rs35378915 GRCh37 Chromosome 11, 5271204: 5271204
6 HBG1 NM_000559.2(HBG1): c.-251T> C single nucleotide variant Pathogenic rs35710727 GRCh37 Chromosome 11, 5271285: 5271285
7 HBG1 NM_000559.2(HBG1): c.-53-196C> T single nucleotide variant Pathogenic rs35983258 GRCh37 Chromosome 11, 5271283: 5271283
8 HBG1 NM_000559.2(HBG1): c.-53-195C> G single nucleotide variant Pathogenic rs35321913 GRCh37 Chromosome 11, 5271282: 5271282
9 HBG1 NM_000559.2(HBG1): c.-167C> T single nucleotide variant Pathogenic rs281860601 GRCh37 Chromosome 11, 5271201: 5271201
10 HBG1 HBG1, C-T, -158 single nucleotide variant Pathogenic
11 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic,protective rs334 GRCh37 Chromosome 11, 5248232: 5248232
12 HBB HBB, 106-KB DEL deletion Pathogenic
13 HBG2 HBG2, T-G, -567 single nucleotide variant Pathogenic

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 HBB HBD HBG1 HBG2
2 11.62 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.46 HBB HBD HBG1 HBG2
2 blood coagulation GO:0007596 9.26 HBB HBD HBG1 HBG2
3 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:

id 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 transporter activity GO:0005344 8.92 HBB HBD HBG1 HBG2

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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