HBFQTL6
MCID: FTL067
MIFTS: 28

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 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). The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and spleen.

More information from OMIM: 613566

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 12.7
2 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 12.6
3 fetal hemoglobin quantitative trait locus 1 12.5
4 fetal hemoglobin quantitative trait locus 3 11.9
5 fetal hemoglobin quantitative trait locus 2 11.8
6 intellectual developmental disorder with persistence of fetal hemoglobin 11.7
7 fetal hemoglobin quantitative trait locus 5 11.4
8 thalassemia 10.9
9 beta-thalassemia 10.8
10 hemoglobinopathy 10.5
11 sickle cell disease 10.4
12 sickle cell anemia 10.4
13 erythroleukemia, familial 10.3
14 alpha-thalassemia 10.3
15 microcytic anemia 10.1
16 thalassemia, beta+, silent allele 10.0
17 yemenite deaf-blind hypopigmentation syndrome 10.0
18 fetal hemoglobin quantitative trait locus 4 10.0
19 aplastic anemia 10.0
20 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
21 leukemia 10.0
22 color blindness 10.0
23 acute chest syndrome 10.0
24 iron metabolism disease 10.0
25 placental abruption 10.0
26 splenomegaly 10.0
27 color vision deficiency 10.0

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

Drugs for Fetal Hemoglobin Quantitative Trait Locus 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
4 Antifungal Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Anti-Bacterial Agents Phase 2
7 Immunosuppressive Agents Phase 2
8 Antibiotics, Antitubercular Phase 2
9 Immunologic Factors Phase 2
10
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Personalized Medicine Approach for Beta-thalassemia Transfusion Dependent Patients: Testing SIROLIMUS in a First Pilot Clinical Trial Recruiting NCT03877809 Phase 2 Sirolimus 0.5 mg
2 Clinical and Laboratory Investigation of Humans With Informative Iron or Erythroid Phenotypes Terminated NCT00102245

Search 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, Bone, Spleen, Bone Marrow

Publications for Fetal Hemoglobin Quantitative Trait Locus 6

Articles related to Fetal Hemoglobin Quantitative Trait Locus 6:

(show top 50) (show all 378)
# Title Authors PMID Year
1
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. 38 8 71
20676099 2010
2
Clinical variability and molecular characterization of Hbs/Gγ (Aγδβ)0-thal and Hbs/HPFH in Indian sickle cell disease patients: AIIMS experience. 38
30777489 2019
3
Targeted deletion of BCL11A gene by CRISPR-Cas9 system for fetal hemoglobin reactivation: A promising approach for gene therapy of beta thalassemia disease. 38
31039344 2019
4
Recent progress in Gene Therapy and Other Targeted Therapeutic Approaches for Beta Thalassemia. 38
31362654 2019
5
[False positive Kleihauer test and hereditary persistence of fetal hemoglobin]. 38
31228651 2019
6
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China. 38
31044540 2019
7
Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes. 38
30506348 2019
8
TALEN-Mediated Gene Editing of HBG in Human Hematopoietic Stem Cells Leads to Therapeutic Fetal Hemoglobin Induction. 38
30705922 2019
9
A Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the SPTB Gene Misdiagnosed as β-Thalassemia Intermedia Due to a KLF1 Gene Mutation. 38
31190573 2019
10
A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 site. 38
30617196 2019
11
Emerging Genetic Therapy for Sickle Cell Disease. 38
30355263 2019
12
Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements. 38
30424953 2019
13
Homozygous Deletion Alpha-Thalassemia and Hereditary Persistence of Fetal Hemoglobin, Two Genetic Factors Predictive the Reduction of Morbidity and Mortality During Pregnancy in Sickle Cell Patients. A Report from the Democratic Republic of Congo. 38
31308915 2019
14
Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India. 38
29621931 2018
15
Prevention of Transcriptional γ-globin Gene Silencing by Inducing The Hereditary Persistence of Fetal Hemoglobin Point Mutation Using Chimeraplast-Mediated Gene Targeting. 38
29845784 2018
16
A Rapid, Affordable and Feasible Method for Detection of the HBG1: g.-225_-222delAGCA Polymorphism. 38
30626245 2018
17
Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion. 38
29880180 2018
18
[Clinical analysis of three cases with beta-thalassemia]. 38
29614571 2018
19
Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding. 38
29610478 2018
20
Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus. 38
29519807 2018
21
The Results of Hemoglobin Variant Analysis in Patients Revealing Microcytic Erythrocytosis on Complete Blood Count. 38
29346667 2018
22
The prevalence and molecular characterization of (δβ)0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population. 38
28763119 2018
23
The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH). 38
29412791 2018
24
Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin. 38
30559951 2018
25
β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report. 38
28901454 2017
26
Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype. 38
28879539 2017
27
KLF1 drives the expression of fetal hemoglobin in British HPFH. 38
28659276 2017
28
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. 38
28624809 2017
29
A Plea for the Newborn Diagnosis of Hb S-Hereditary Persistence of Fetal Hemoglobin. 38
28870138 2017
30
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. 38
27591578 2017
31
Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion. 38
27701781 2017
32
Erroneous HbA1c results in a patient with elevated HbC and HbF. 38
27664335 2016
33
Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases? 38
27708211 2016
34
Activation of Fetal γ-globin Gene Expression via Direct Protein Delivery of Synthetic Zinc-finger DNA-Binding Domains. 38
27754490 2016
35
A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition. 38
27525524 2016
36
Genome editing using CRISPR-Cas9 to create the HPFH genotype in HSPCs: An approach for treating sickle cell disease and β-thalassemia. 38
27601644 2016
37
Fessas P, Stamatoyannopoulos G. Hereditary persistence of fetal hemoglobin in Greece: a study and a comparison. Blood. 1964;24(3):223-240. 38
27389537 2016
38
The Natural History of Hb S/Hereditary Persistence of Fetal Hemoglobin in 13 Children from the State of Minas Gerais, Brazil. 38
27117574 2016
39
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. 38
26946532 2016
40
Extramedullary hematopoiesis presented as cytopenia and massive paraspinal masses leading to cord compression in a patient with hereditary persistence of fetal hemoglobin. 38
27595000 2016
41
Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease. 38
26372199 2016
42
Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases. 38
27011683 2016
43
Functional Analysis of an (A)γ-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress. 38
26575252 2016
44
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. 38
25251786 2015
45
[Testicular Tumor in a Patient with Delta Thalassemia Complicated with Hereditary Persistence of Fetal Hemoglobin]. 38
26524894 2015
46
Two cases of asymptomatic massive fetomaternal hemorrhage. 38
25736586 2015
47
Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China. 38
26290351 2015
48
Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a case report. 38
25386442 2014
49
Harvesting autologous stem cells from a patient with red blood cell abnormalities of β-thalassemia intermedia. 38
24527966 2014
50
Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients. 38
24943756 2014

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 GRCh37 Pos GRCh38 Pos
1 KLF1 NM_006563.4(KLF1): c.862A> T (p.Lys288Ter) single nucleotide variant Pathogenic rs267607202 19:12996182-12996182 19:12885368-12885368
2 KLF1 NM_006563.4(KLF1): c.892G> C (p.Ala298Pro) single nucleotide variant Pathogenic rs387907598 19:12996152-12996152 19:12885338-12885338
3 KLF1 NM_006563.4(KLF1): c.1012C> T (p.Pro338Ser) single nucleotide variant Pathogenic rs387907599 19:12995776-12995776 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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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