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Hemoglobin
international journal for hemoglobin research
Volume 41, 2017 - Issue 4-6
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Short Communication

Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins

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Pages 314-316 | Received 22 Sep 2017, Accepted 09 Nov 2017, Published online: 09 Jan 2018

References

  • Hardison RC, Chui DHK, Giardine B, et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233 (http://globin.cse.psu.edu).
  • Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
  • Bunn HF, Forget BG. Hemoglobin: Molecular, Genetic and Clinical Aspects. Philadelphia (PA, USA): W.B. Saunders Company, 1986.
  • Bain BJ, Editor. Disorders of red cells and platelets. Blood Cells: A Practical Guide, 5th ed. Oxford (Oxfordshire, UK): Wiley-Blackwell. 2015;295–415.
  • Spivak VA, Molchanova TP, Postnikov YuV, et al. A new abnormal hemoglobin: Hb Mozhaisk β92(F8)His→Arg. Hemoglobin. 1982;6(2):169–181.
  • Bird AR, Elliott T. Two rare unstable β chain variants, Hb Mozhaisk or α2β292(F8)His→Arg and Hb Djelfa or α2β298(FG5)Val→Ala, each being observed for the second time. Hemoglobin. 1989;13(2):193–197.
  • Beuzard Y, Courvalin JC, Solal MC, et al. Structural studies of Hemoglobin Saint Etienne β92(F8)His→Gln: a new abnormal hemoglobin with loss of β proximal histidine and absence of heme on the β chains. FEBS Lett. 1972;27(1):76–80.
  • Aksoy M, Erdem S, Efremov GD, et al. Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92)). J Clin Invest. 1972;51(9):2380–2387.
  • Finney R, Casey R. Hb Newcastle: β92(F8)His→Pro. FEBS Lett. 1975;60(2):435–438.
  • Saadi AV, Girisha KM, Gopinath PM, et al. Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia. Transl Res. 2011;157(3):150–155.

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