Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin
- PMID:9859924
- DOI: 10.3109/03630269809071538
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin
Abstract
Hb F and F cell values in normal adults vary considerably with a continuous distribution that is substantially skewed to the right implicating a polygenic influence. The high values of Hb F and F cells are transmitted in the condition referred to as heterocellular hereditary persistence fetal hemoglobin which should be regarded as a multifactorial quantitative trait, quite distinct from the classical pancellular hereditary persistence of fetal hemoglobins. Several factors have been shown to influence F cell/Hb F levels in normal adults including age, gender, genetic determinants linked and unlinked to the beta-globin locus on chromosome 11p. Two trans-acting quantitative trait loci for F cell variance have been mapped, one on 6q and the other on Xp, with at least one other implicated. As an initial step towards hunting for the other quantitative trait loci we have carried out a preliminary analysis of F cell variance in 182 pairs of monozygotic and 373 pairs of dizygotic twins. The correlation coefficient of F cell variance in monozygotic twins was 0.89, while that in the dizygotic twins was 0.51. Overwhelming evidence for a strong genetic component in the control of Hb F/F cell levels is provided by a heritability of 0.87. However, the role and extent of contribution from the quantitative trait loci on 6q and Xp are still not known.
Similar articles
- Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin.Craig JE, Rochette J, Sampietro M, Wilkie AO, Barnetson R, Hatton CS, Demenais F, Thein SL.Craig JE, et al.Blood. 1997 Jul 1;90(1):428-34.Blood. 1997.PMID:9207480
- An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age.Chang YC, Smith KD, Moore RD, Serjeant GR, Dover GJ.Chang YC, et al.Blood. 1995 Feb 15;85(4):1111-7.Blood. 1995.PMID:7531513
- 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.Garner C, et al.Am J Hum Genet. 1998 Jun;62(6):1468-74. doi: 10.1086/301859.Am J Hum Genet. 1998.PMID:9585587Free PMC article.
- [Genetically based states of elevated quantity of foetal haemoglobin (Hb F) in healthy individuals and patients].Musielak M.Musielak M.Pol Merkur Lekarski. 2011 Jan;30(175):62-5.Pol Merkur Lekarski. 2011.PMID:21542248Review.Polish.
- Delta beta thalassemia and hereditary persistence of fetal hemoglobin.Bollekens JA, Forget BG.Bollekens JA, et al.Hematol Oncol Clin North Am. 1991 Jun;5(3):399-422.Hematol Oncol Clin North Am. 1991.PMID:1713909Review.
Cited by
- Construction and Analysis of a Long Non-Coding RNA (lncRNA)-Associated ceRNA Network in β-Thalassemia and Hereditary Persistence of Fetal Hemoglobin.Jia W, Jia S, Chen P, He Y.Jia W, et al.Med Sci Monit. 2019 Sep 21;25:7079-7086. doi: 10.12659/MSM.915946.Med Sci Monit. 2019.PMID:31541070Free PMC article.
- Developmental and epigenetic regulation of the human TLR3 gene.Porrás A, Kozar S, Russanova V, Salpea P, Hirai T, Sammons N, Mittal P, Kim JY, Ozato K, Romero R, Howard BH.Porrás A, et al.Mol Immunol. 2008 Nov;46(1):27-36. doi: 10.1016/j.molimm.2008.06.030. Epub 2008 Aug 19.Mol Immunol. 2008.PMID:18715647Free PMC article.
- Heterogeneity of Red Blood Cells: Causes and Consequences.Bogdanova A, Kaestner L, Simionato G, Wickrema A, Makhro A.Bogdanova A, et al.Front Physiol. 2020 May 7;11:392. doi: 10.3389/fphys.2020.00392. eCollection 2020.Front Physiol. 2020.PMID:32457644Free PMC article.Review.
- Beta-thalassaemia prototype of a single gene disorder with multiple phenotypes.Thein SL.Thein SL.Int J Hematol. 2002 Aug;76 Suppl 2:96-104. doi: 10.1007/BF03165097.Int J Hematol. 2002.PMID:12430908Review.
- 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.Lai K, Jia S, Yu S, Luo J, He Y.Lai K, et al.Oncotarget. 2017 Jul 25;8(30):49931-49943. doi: 10.18632/oncotarget.18263.Oncotarget. 2017.PMID:28624809Free PMC article.
Publication types
MeSH terms
Substances
Related information
LinkOut - more resources
Full Text Sources
Research Materials