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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 3
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Short Communication

Description of a Rare β-Globin Gene Mutation: –86 (C>G) (HBB: c.-136C>G) Observed in a Syrian Family

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Pages 203-205 | Received 28 May 2018, Accepted 24 Jun 2018, Published online: 03 Sep 2018

References

  • Jarjour RA, Murad H, Moasses F, et al. Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations. Hemoglobin 2014;38(4):272–276.
  • Murad H, Moassas F, Jarjour R, et al. Prenatal molecular diagnosis of β-thalassemia and sickle cell anemia in the Syrian population. Hemoglobin 2014;38(6):390–393.
  • Murad H, Moasses F, Dabboul A, et al. Geographical distribution of β-globin gene mutations in Syria. Hematology 2018;11:1–8.
  • Galanello R, Origa R. β-thalassemia. Orphanet J Rare Dis. 2010;5(1):11.
  • Cao A, Moi P, Galanello R. Recent advances in β-thalassemias. Pediatr Rep. 2011;3(2):e17.
  • Ropero P, Erquiaga S, Arrizabalaga B, et al. Phenotype of mutations in the promoter region of the β-globin gene. J Clin Pathol. 2017;70(10):874–878.
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069. (http://globin.cse.psu.edu).
  • Attila G, Yalin S, Tuli A, et al. Prenatal diagnosis of sickle cell anemia in twin pregnancies and identification by VNTRs. Clin Chim Acta. 2004;350(1–2):137–142.
  • Sirdah MM, Sievertsen J, Al-Yazji MS, et al. The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. Blood Cells Mol Dis. 2013;50(4):247–251.
  • Falchi A, Giovannoni L, Vacca L, et al. β-globin gene cluster haplotypes associated with β-thalassemia on Corsica Island. Am J Hematol. 2005;78(1):27–32.
  • Moi P, Faa V, Marini MG, et al. A novel silent β-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. Br J Haematol. 2004;126(6):881–884.
  • Klat M, Khudr A. Religious endogamy and consanguinity in marriage patterns in Beirut, Lebanon. Soc Biol. 1986;33(1-2):138–145.
  • Marshall S, Das R, Pirooznia M, et al. Reconstructing Druze population history. Sci Rep. 2016;6:35837.
  • Makhoul NJ, Wells RS, Kaspar H, et al. Genetic heterogeneity of β thalassemia in Lebanon reflects historic and recent population migration. Ann Hum Genet. 2005;69(Pt 1):55–66.
  • Yamsri S, Singha K, Prajantasen T, et al. A large cohort of β+-thalassemia in Thailand: molecular, hematological and diagnostic considerations. Blood Cells Mol Dis. 2015;54(2):164–169.
  • Bravo-Urquiola M, Arends A, Gomez G, et al. Molecular spectrum of β-thalassemia mutations in the admixed Venezuelan population, and their linkage to β-globin gene haplotypes. Hemoglobin 2012;36(3):209–218.
  • He S, Qin Q, Yi S, et al. First description of a β-thalassemia mutation, –86 (C>G) (HBB: c.-136C>G), in a Chinese Family. Hemoglobin 2015;39(6):448–450.
  • Meloni A, Rosatelli MC, Faa V, et al. Promoter mutations producing mild β-thalassaemia in the Italian population. Br J Haematol. 1992;80(2):222–226.
  • Piras I, Vona G, Falchi A, et al. β-globin cluster haplotypes in normal individuals and β039-thalassemia carriers from Sardinia, Italy. Am J Hum Biol. 2005;17(6):765–772.
  • Fattoum S. Hemoglobinopathies in Tunisia. An updated review of the epidemiologic and molecular data. Tunis Med 2006;84(11):687–696.
  • Lemsaddek W, Picanço I, Seuanes F, et al. The β-thalassemia mutation/haplotype distribution in the Moroccan population. Hemoglobin 2009;28(1):25–37.
  • Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982;296(5858):627–631.
  • Martinez H, Rodriguez-Larralde A, Izaguirre MH, et al. Admixture estimates for Caracas, Venezuela, based on autosomal, Y-chromosome, and mtDNA markers. Hum Biol. 2007;79(2):201–213.

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