HBFQTL2
MCID: FTL036
MIFTS: 16

Fetal Hemoglobin Quantitative Trait Locus 2 (HBFQTL2)

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

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 2

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 2:

Name: Fetal Hemoglobin Quantitative Trait Locus 2 57 29 13
Hbfqtl2 57

Characteristics:

OMIM®:

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


HPO:

31
fetal hemoglobin quantitative trait locus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 142470
MedGen 41 C1840598
SNOMED-CT via HPO 68 191124002 263681008 34093004

Summaries for Fetal Hemoglobin Quantitative Trait Locus 2

OMIM® : 57 Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases of HbF ranging from 0.8% to 5%, a trait often referred to as hereditary persistence of fetal hemoglobin (HPFH), usually distributed unevenly among red cells. When coinherited with beta-thalassemia (see 613985) or sickle cell anemia (603903), HPFH can increase HbF output to levels that are clinically beneficial (Thein et al., 2007). For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749). (142470) (Updated 05-Apr-2021)

MalaCards based summary : Fetal Hemoglobin Quantitative Trait Locus 2, is also known as hbfqtl2. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 2 is HBFQTL2 (Hereditary Persistence Of Fetal Hemoglobin, Heterocellular). Related phenotype is abnormality of blood and blood-forming tissues.

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 2

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 2

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 2:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of blood and blood-forming tissues 31 HP:0001871

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Heme:
heterocellular persistence of fetal hemoglobin

Misc:
only some cells have high fetal hemoglobin
interaction of hpfh with beta-thalassemia and ss disease

Clinical features from OMIM®:

142470 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 2

Search Clinical Trials , NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 2

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 2

Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 2:

# Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 2 29

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 2

Publications for Fetal Hemoglobin Quantitative Trait Locus 2

Articles related to Fetal Hemoglobin Quantitative Trait Locus 2:

# Title Authors PMID Year
1
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. 57
21057501 2010
2
The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. 57
19528534 2009
3
The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia. 57
18697826 2008
4
Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E. 57
18839276 2008
5
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
6
The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. 57
17712044 2007
7
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. 57
17592125 2007
8
Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. 57
9585587 1998
9
Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. 57
8528252 1996
10
Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. 57
7508182 1994

Variations for Fetal Hemoglobin Quantitative Trait Locus 2

Expression for Fetal Hemoglobin Quantitative Trait Locus 2

Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 2.

Pathways for Fetal Hemoglobin Quantitative Trait Locus 2

GO Terms for Fetal Hemoglobin Quantitative Trait Locus 2

Sources for Fetal Hemoglobin Quantitative Trait Locus 2

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
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