MCID: FTL067
MIFTS: 23

Fetal Hemoglobin Quantitative Trait Locus 6

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

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 6

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 6:

Name: Fetal Hemoglobin Quantitative Trait Locus 6 57 29 6
Hereditary Persistence of Fetal Hemoglobin, Klf1-Related 57 6
Hemoglobin, Fetal, Quantitative Trait Locus 6 40
Hereditary Persistence of Fetal Hemoglobin 57
Hbfqtl6 57

Classifications:



External Ids:

OMIM 57 613566

Summaries for Fetal Hemoglobin Quantitative Trait Locus 6

MalaCards based summary : Fetal Hemoglobin Quantitative Trait Locus 6, also known as hereditary persistence of fetal hemoglobin, klf1-related, is related to hereditary persistence of fetal hemoglobin-sickle cell disease syndrome and hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 6 is KLF1 (Kruppel Like Factor 1). Affiliated tissues include testes.

Description from OMIM: 613566

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 6

Graphical network of the top 20 diseases related to Fetal Hemoglobin Quantitative Trait Locus 6:



Diseases related to Fetal Hemoglobin Quantitative Trait Locus 6

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 6

Clinical features from OMIM:

613566

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 6

Search Clinical Trials , NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 6

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 6

Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 6:

# Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 6 29 KLF1

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 6

MalaCards organs/tissues related to Fetal Hemoglobin Quantitative Trait Locus 6:

41
Testes

Publications for Fetal Hemoglobin Quantitative Trait Locus 6

Articles related to Fetal Hemoglobin Quantitative Trait Locus 6:

(show top 50) (show all 148)
# 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
The prevalence and molecular characterization of (δβ)0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population. ( 28763119 )
2018
3
The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH). ( 29412791 )
2018
4
Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion. ( 27701781 )
2017
5
Genome-wide analysis of aberrantly expressed lncRNAs and miRNAs with associated co-expression and ceRNA networks in I^-thalassemia and hereditary persistence of fetal hemoglobin. ( 28624809 )
2017
6
Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian I'I^-thalassemia, by BCL11A and SOX6-targeting microRNAs. ( 27591578 )
2016
7
Original Research: Generation of non-deletional hereditary persistence of fetal hemoglobin I^-globin locus yeast artificial chromosome transgenic mouse models: -175 Black HPFH and -195 Brazilian HPFH. ( 26946532 )
2016
8
Extramedullary hematopoiesis presented as cytopenia and massive paraspinal masses leading to cord compression in a patient with hereditary persistence of fetal hemoglobin. ( 27595000 )
2016
9
Two Novel Mutations (HBG1: c.-250C>T and HBG2: c.-250C>T) Associated With Hereditary Persistence of Fetal Hemoglobin. ( 24144231 )
2014
10
Gene expression analysis of the Brazilian type of hereditary persistence of fetal hemoglobin: identification of genes that could be related to I^-globin activation. ( 23952144 )
2013
11
Disruption of the Hbs1l-Myb locus causes hereditary persistence of fetal hemoglobin in a mouse model. ( 23428869 )
2013
12
Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known I^- gene mutations associated with hereditary persistence of fetal hemoglobin. ( 23621512 )
2013
13
Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin. ( 23161389 )
2013
14
Identical mutations in the paralogous human I^-globin genes leading to hemoglobin variants and nondeletional hereditary persistence of fetal hemoglobin. ( 21417570 )
2011
15
Complex interaction of Hb Q-Thailand and Hb E with alpha(0)-thalassemia and hereditary persistence of fetal hemoglobin in a Chinese family. ( 20333523 )
2010
16
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. ( 20676099 )
2010
17
Hemoglobin Kenya composed of alpha- and ((A)gammabeta)-fusion-globin chains, associated with hereditary persistence of fetal hemoglobin. ( 19006227 )
2009
18
The Cretan type of nondeletional hereditary persistence of fetal hemoglobin in an Iranian family. ( 19468729 )
2009
19
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter. ( 19050890 )
2009
20
High levels of human gamma-globin are expressed in adult mice carrying a transgene of the Brazilian type of hereditary persistence of fetal hemoglobin ((A)gamma -195). ( 19958189 )
2009
21
Molecular basis of deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia in Indian patients. ( 18343225 )
2008
22
Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia. ( 18615450 )
2008
23
G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece. ( 18096417 )
2008
24
Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. ( 18932066 )
2008
25
Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the Agamma -158 C>T mutation in gamma-globin gene transcription. ( 18718799 )
2008
26
Purification and identification of proteins that bind to the hereditary persistence of fetal hemoglobin -198 mutation in the gamma-globin gene promoter. ( 17114178 )
2007
27
Molecular mechanism of high hemoglobin F production in Southeast Asian-type hereditary persistence of fetal hemoglobin. ( 16720553 )
2006
28
Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia. ( 16840228 )
2006
29
Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin. ( 16271016 )
2005
30
Compound heterozygote state for GgammaAgamma(deltabeta) degrees -thalassemia and hereditary persistence of fetal hemoglobin. ( 16184575 )
2005
31
Use of the hereditary persistence of fetal hemoglobin 2 enhancer to increase the expression of oncoretrovirus vectors for human gamma-globin. ( 15944728 )
2005
32
T to C substitution at -175 or -173 of the gamma-globin promoter affects GATA-1 and Oct-1 binding in vitro differently but can independently reproduce the hereditary persistence of fetal hemoglobin phenotype in transgenic mice. ( 15613485 )
2005
33
Molecular basis and hematologic characterization of deltabeta-thalassemia and hereditary persistence of fetal hemoglobin in Thailand. ( 15257928 )
2004
34
Analysis of the mechanism of action of the Brazilian type (Agamma-195 C --> G) of hereditary persistence of fetal hemoglobin. ( 14703691 )
2003
35
Molecular characterization of hereditary persistence of fetal hemoglobin in the Karen people of Thailand. ( 12779271 )
2003
36
A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes. ( 11976733 )
2002
37
Flow cytometric measurement of hemoglobin F in RBCs: diagnostic usefulness in the distinction of hereditary persistence of fetal hemoglobin (HPFH) and hemoglobin S-hPFH from other conditions with elevated levels of hemoglobin F. ( 12047136 )
2002
38
Thalassemia intermedia and extramedullary hematopoiesis associated with compound heterozygosity for the 532 bp deletion of the beta-globin gene and gene deletion hereditary persistence of fetal hemoglobin. ( 11300354 )
2001
39
Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice. ( 11226166 )
2001
40
The Agamma-195 (C-->G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro. ( 11285460 )
2001
41
Spurious elevation of hemoglobin A1c by hereditary persistence of fetal hemoglobin. ( 10653068 )
2000
42
A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin. ( 10335983 )
1999
43
Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. ( 10022837 )
1999
44
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. ( 9859924 )
1998
45
Persistent iron and folate deficiency in a patient with deletional hereditary persistence of fetal hemoglobin; the effect on the relative levels of Hb F and G gamma chains and the corresponding mRNAs. ( 9494048 )
1998
46
Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin. ( 9590149 )
1998
47
Molecular basis of hereditary persistence of fetal hemoglobin. ( 9668525 )
1998
48
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events. ( 9703422 )
1998
49
High levels of human gamma-globin gene expression in adult mice carrying a transgene of deletion-type hereditary persistence of fetal hemoglobin. ( 9121456 )
1997
50
Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin. ( 9207480 )
1997

Variations for Fetal Hemoglobin Quantitative Trait Locus 6

ClinVar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLF1 NM_006563.4(KLF1): c.862A> T (p.Lys288Ter) single nucleotide variant Pathogenic rs267607202 GRCh37 Chromosome 19, 12996182: 12996182
2 KLF1 NM_006563.4(KLF1): c.862A> T (p.Lys288Ter) single nucleotide variant Pathogenic rs267607202 GRCh38 Chromosome 19, 12885368: 12885368
3 KLF1 NM_006563.4(KLF1): c.892G> C (p.Ala298Pro) single nucleotide variant Pathogenic rs387907598 GRCh37 Chromosome 19, 12996152: 12996152
4 KLF1 NM_006563.4(KLF1): c.892G> C (p.Ala298Pro) single nucleotide variant Pathogenic rs387907598 GRCh38 Chromosome 19, 12885338: 12885338
5 KLF1 NM_006563.4(KLF1): c.1012C> T (p.Pro338Ser) single nucleotide variant Pathogenic rs387907599 GRCh37 Chromosome 19, 12995776: 12995776
6 KLF1 NM_006563.4(KLF1): c.1012C> T (p.Pro338Ser) single nucleotide variant Pathogenic rs387907599 GRCh38 Chromosome 19, 12884962: 12884962

Expression for Fetal Hemoglobin Quantitative Trait Locus 6

Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 6.

Pathways for Fetal Hemoglobin Quantitative Trait Locus 6

GO Terms for Fetal Hemoglobin Quantitative Trait Locus 6

Sources for Fetal Hemoglobin Quantitative Trait Locus 6

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
Content
Loading form....