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Fetal hemoglobin quantitative trait locus 5(HBFQTL5)

MedGen UID:
409908
Concept ID:
C1969758
Finding
Synonyms: HBFQTL5
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Cytogenetic location: 2p16.1
OMIM®: 142335

Definition

In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than 0.06% of total hemoglobin) with over 20-fold variation. Ten to fifteen percent of adults fall within the upper tail of the distribution and have HbF levels between 0.8% and 5%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin Although these HbF levels are modest in otherwise healthy individuals, interaction of heterocellular HPFH with beta-thalassemia (see 613985) or sickle cell disease (SS; 603903) can increase HbF output in these individuals to levels that are clinically beneficial (Menzel et al., 2007). For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749). [from GTR]

Additional description

From OMIM
In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than 0.06% of total hemoglobin) with over 20-fold variation. Ten to fifteen percent of adults fall within the upper tail of the distribution and have HbF levels between 0.8% and 5%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin Although these HbF levels are modest in otherwise healthy individuals, interaction of heterocellular HPFH with beta-thalassemia (see 613985) or sickle cell disease (SS; 603903) can increase HbF output in these individuals to levels that are clinically beneficial (Menzel et al., 2007). For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749).  http://www.omim.org/entry/142335

Clinical features

Abnormality of blood and blood-forming tissues
MedGen UID:
163092
Concept ID:
C0850715
Finding
An abnormality of the hematopoietic system.

Recent clinical studies

Etiology

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
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
Farrell JJ, Sherva RM, Chen ZY, Luo HY, Chu BF, Ha SY, Li CK, Lee AC, Li RC, Li CK, Yuen HL, So JC, Ma ES, Chan LC, Chan V, Sebastiani P, Farrer LA, Baldwin CT, Steinberg MH, Chui DH
Blood 2011 May 5;117(18):4935-45. Epub 2011 Mar 8 doi: 10.1182/blood-2010-11-317081. PMID: 21385855Free PMC Article
Creary LE, Ulug P, Menzel S, McKenzie CA, Hanchard NA, Taylor V, Farrall M, Forrester TE, Thein SL
PLoS One 2009;4(1):e4218. Epub 2009 Jan 16 doi: 10.1371/journal.pone.0004218. PMID: 19148297Free PMC Article
Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH
Am J Hematol 2008 Mar;83(3):189-95. doi: 10.1002/ajh.21048. PMID: 17918249

Prognosis

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
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

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
Mtatiro SN, Singh T, Rooks H, Mgaya J, Mariki H, Soka D, Mmbando B, Msaki E, Kolder I, Thein SL, Menzel S, Cox SE, Makani J, Barrett JC
PLoS One 2014;9(11):e111464. Epub 2014 Nov 5 doi: 10.1371/journal.pone.0111464. PMID: 25372704Free PMC Article
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
Jiang J, Best S, Menzel S, Silver N, Lai MI, Surdulescu GL, Spector TD, Thein SL
Blood 2006 Aug 1;108(3):1077-83. doi: 10.1182/blood-2006-01-008912. PMID: 16861354
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

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

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