HBFQTL6
MCID: FTL067
MIFTS: 22

Fetal Hemoglobin Quantitative Trait Locus 6 (HBFQTL6)

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 58 30 6
Hereditary Persistence of Fetal Hemoglobin, Klf1-Related 58 6
Hemoglobin, Fetal, Quantitative Trait Locus 6 41
Hereditary Persistence of Fetal Hemoglobin 58
Hbfqtl6 58

Classifications:



External Ids:

OMIM 58 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 30 KLF1

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 6

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

42
Testes

Publications for Fetal Hemoglobin Quantitative Trait Locus 6

Articles related to Fetal Hemoglobin Quantitative Trait Locus 6:

(show top 50) (show all 151)
# Title Authors Year
1
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China. ( 31044540 )
2019
2
Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India. ( 29621931 )
2018
3
The prevalence and molecular characterization of (δβ)0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population. ( 28763119 )
2018
4
The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH). ( 29412791 )
2018
5
Genome-wide analysis of aberrantly expressed lncRNAs and miRNAs with associated co-expression and ceRNA networks in β-thalassemia and hereditary persistence of fetal hemoglobin. ( 28624809 )
2017
6
Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δβ-thalassemia, by BCL11A and SOX6-targeting microRNAs. ( 27591578 )
2017
7
Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion. ( 27701781 )
2017
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
Original Research: Generation of non-deletional hereditary persistence of fetal hemoglobin β-globin locus yeast artificial chromosome transgenic mouse models: -175 Black HPFH and -195 Brazilian HPFH. ( 26946532 )
2016
10
Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin. ( 23621512 )
2014
11
Two novel mutations (HBG1: c.-250C > T and HBG2: c.-250C > T) associated with hereditary persistence of fetal hemoglobin. ( 24144231 )
2014
12
Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin. ( 23161389 )
2013
13
Disruption of the Hbs1l-Myb locus causes hereditary persistence of fetal hemoglobin in a mouse model. ( 23428869 )
2013
14
Gene expression analysis of the Brazilian type of hereditary persistence of fetal hemoglobin: identification of genes that could be related to γ-globin activation. ( 23952144 )
2013
15
Identical mutations in the paralogous human γ-globin genes leading to hemoglobin variants and nondeletional hereditary persistence of fetal hemoglobin. ( 21417570 )
2011
16
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
17
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. ( 20676099 )
2010
18
Hemoglobin Kenya composed of alpha- and ((A)gammabeta)-fusion-globin chains, associated with hereditary persistence of fetal hemoglobin. ( 19006227 )
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
The Cretan type of nondeletional hereditary persistence of fetal hemoglobin in an Iranian family. ( 19468729 )
2009
22
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
23
Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. ( 18932066 )
2008
24
Molecular basis of deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia in Indian patients. ( 18343225 )
2008
25
Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia. ( 18615450 )
2008
26
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
27
Purification and identification of proteins that bind to the hereditary persistence of fetal hemoglobin -198 mutation in the gamma-globin gene promoter. ( 17114178 )
2007
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
Molecular mechanism of high hemoglobin F production in Southeast Asian-type hereditary persistence of fetal hemoglobin. ( 16720553 )
2006
30
Use of the hereditary persistence of fetal hemoglobin 2 enhancer to increase the expression of oncoretrovirus vectors for human gamma-globin. ( 15944728 )
2005
31
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
32
Compound heterozygote state for GgammaAgamma(deltabeta) degrees -thalassemia and hereditary persistence of fetal hemoglobin. ( 16184575 )
2005
33
Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin. ( 16271016 )
2005
34
Molecular basis and hematologic characterization of deltabeta-thalassemia and hereditary persistence of fetal hemoglobin in Thailand. ( 15257928 )
2004
35
Analysis of the mechanism of action of the Brazilian type (Agamma-195 C --> G) of hereditary persistence of fetal hemoglobin. ( 14703691 )
2003
36
Molecular characterization of hereditary persistence of fetal hemoglobin in the Karen people of Thailand. ( 12779271 )
2003
37
A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes. ( 11976733 )
2002
38
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
39
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
40
Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice. ( 11226166 )
2001
41
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
42
Spurious elevation of hemoglobin A1c by hereditary persistence of fetal hemoglobin. ( 10653068 )
2000
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
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
45
Molecular basis of hereditary persistence of fetal hemoglobin. ( 9668525 )
1998
46
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events. ( 9703422 )
1998
47
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. ( 9859924 )
1998
48
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
49
Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin. ( 9590149 )
1998
50
Detection of non-deletional type of hereditary persistence of fetal hemoglobin (HPFH) condition associated with 619 bp β(°)-thalassemia deletion. ( 23100882 )
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

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10 dbSNP
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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