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FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6(HBFQTL6)

MedGen UID:
462155
•Concept ID:
C3150805
•
Finding
Synonyms: HBFQTL6; HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED
 
Gene (location): KLF1 (19p13.13)
 
OMIM®: 613566

Recent clinical studies

Etiology

Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.
Manco L, Bento C, Relvas L, Cunha E, Pereira J, Moreira V, Alvarez M, Maia T, Ribeiro ML
Hemoglobin 2020 Mar;44(2):113-117. Epub 2020 Apr 22 doi: 10.1080/03630269.2020.1753766. PMID: 32319326
The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.
Lai Y, Zhou L, Yi S, Chen Y, Tang Y, Yi S, Yang Z, Wei H, Zheng C, He S
Blood Cells Mol Dis 2017 Mar;63:52-57. Epub 2017 Jan 25 doi: 10.1016/j.bcmd.2017.01.011. PMID: 28160732
Global genetic architecture of an erythroid quantitative trait locus, HMIP-2.
Menzel S, Rooks H, Zelenika D, Mtatiro SN, Gnanakulasekaran A, Drasar E, Cox S, Liu L, Masood M, Silver N, Garner C, Vasavda N, Howard J, Makani J, Adekile A, Pace B, Spector T, Farrall M, Lathrop M, Thein SL
Ann Hum Genet 2014 Nov;78(6):434-51. Epub 2014 Jul 29 doi: 10.1111/ahg.12077. PMID: 25069958Free PMC Article
Diagnosis and prevention of thalassemia.
Ip HW, So CC
Crit Rev Clin Lab Sci 2013 Nov;50(6):125-41. doi: 10.3109/10408363.2013.847236. PMID: 24295057
Abundant pleiotropy in human complex diseases and traits.
Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T, Rudan I, McKeigue P, Wilson JF, Campbell H
Am J Hum Genet 2011 Nov 11;89(5):607-18. doi: 10.1016/j.ajhg.2011.10.004. PMID: 22077970Free PMC Article

Diagnosis

Diagnosis and prevention of thalassemia.
Ip HW, So CC
Crit Rev Clin Lab Sci 2013 Nov;50(6):125-41. doi: 10.3109/10408363.2013.847236. PMID: 24295057
The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells.
Wahlberg K, Jiang J, Rooks H, Jawaid K, Matsuda F, Yamaguchi M, Lathrop M, Thein SL, Best S
Blood 2009 Aug 6;114(6):1254-62. Epub 2009 Jun 15 doi: 10.1182/blood-2009-03-210146. PMID: 19528534

Therapy

The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease.
Adekile A
Med Princ Pract 2021;30(3):201-211. Epub 2020 Sep 4 doi: 10.1159/000511342. PMID: 32892201Free PMC Article

Prognosis

The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease.
Al-Allawi N, Qadir SMA, Puehringer H, Chui DHK, Farrell JJ, Oberkanins C
Int J Lab Hematol 2019 Feb;41(1):87-93. Epub 2018 Sep 14 doi: 10.1111/ijlh.12927. PMID: 30216683
The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.
Lai Y, Zhou L, Yi S, Chen Y, Tang Y, Yi S, Yang Z, Wei H, Zheng C, He S
Blood Cells Mol Dis 2017 Mar;63:52-57. Epub 2017 Jan 25 doi: 10.1016/j.bcmd.2017.01.011. PMID: 28160732
A Multi-locus Approach to Characterization of Major Quantitative Trait Loci Influencing Hb F Regulation in Chinese β-thalassemia Carriers.
Chan NC, Lau KM, Cheng KC, Chan NP, Ng MH
Hemoglobin 2016 Nov;40(6):400-404. Epub 2016 Nov 14 doi: 10.1080/03630269.2016.1245198. PMID: 27707011
Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia.
Bhanushali AA, Patra PK, Pradhan S, Khanka SS, Singh S, Das BR
Transl Res 2015 Jun;165(6):696-703. Epub 2015 Jan 13 doi: 10.1016/j.trsl.2015.01.002. PMID: 25651163
Abundant pleiotropy in human complex diseases and traits.
Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T, Rudan I, McKeigue P, Wilson JF, Campbell H
Am J Hum Genet 2011 Nov 11;89(5):607-18. doi: 10.1016/j.ajhg.2011.10.004. PMID: 22077970Free PMC Article

Clinical prediction guides

Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.
Manco L, Bento C, Relvas L, Cunha E, Pereira J, Moreira V, Alvarez M, Maia T, Ribeiro ML
Hemoglobin 2020 Mar;44(2):113-117. Epub 2020 Apr 22 doi: 10.1080/03630269.2020.1753766. PMID: 32319326
The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease.
Al-Allawi N, Qadir SMA, Puehringer H, Chui DHK, Farrell JJ, Oberkanins C
Int J Lab Hematol 2019 Feb;41(1):87-93. Epub 2018 Sep 14 doi: 10.1111/ijlh.12927. PMID: 30216683
The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.
Lai Y, Zhou L, Yi S, Chen Y, Tang Y, Yi S, Yang Z, Wei H, Zheng C, He S
Blood Cells Mol Dis 2017 Mar;63:52-57. Epub 2017 Jan 25 doi: 10.1016/j.bcmd.2017.01.011. PMID: 28160732
Abundant pleiotropy in human complex diseases and traits.
Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T, Rudan I, McKeigue P, Wilson JF, Campbell H
Am J Hum Genet 2011 Nov 11;89(5):607-18. doi: 10.1016/j.ajhg.2011.10.004. PMID: 22077970Free PMC Article
Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23.
Garner C, Mitchell J, Hatzis T, Reittie J, Farrall M, Thein SL
Am J Hum Genet 1998 Jun;62(6):1468-74. doi: 10.1086/301859. PMID: 9585587Free PMC Article

Recent systematic reviews

Abundant pleiotropy in human complex diseases and traits.
Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T, Rudan I, McKeigue P, Wilson JF, Campbell H
Am J Hum Genet 2011 Nov 11;89(5):607-18. doi: 10.1016/j.ajhg.2011.10.004. PMID: 22077970Free PMC Article

Supplemental Content

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    Clinical resources

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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