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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 1
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Original Article

A Coincidental Discovery of a New Stable Variant (Hb Hachioji or HBB: c.187C>T) in a Patient with Chronic Hemolytic Anemia of Unexplained Origin

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Pages 1-6 | Received 29 Aug 2017, Accepted 27 Nov 2017, Published online: 07 Mar 2018

References

  • Steinberg MH, Nagel RL. Unstable hemoglobins, hemoglobins with altered oxygen affinity, Hemoglobin M, and other variants of clinical and biological interest. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, Eds. Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management, 2nd ed. New York (NY, USA): Cambridge University Press; 2009:589–606.
  • Hattori Y, Harano T. Abnormal hemoglobin and thalassemia. [in Japanese]. Nihon Rinsho. 2001;59(7):437–451.
  • Bunn HF, Forget BG. Unstable hemoglobin variants – congenital Heinz body hemolytic anemia. In: Bunn HF, Forget BG, Eds. Hemoglobin: Molecular, Genetic and Clinical Aspects. Philadelphia (PA, USA): W.B. Saunders Company; 1986:565–594.
  • De la Fuente-Gonzalo F, Nieto J, Velasco D, et al. Hb Puerta del Sol [HBA1: c.148A>C], Hb Valdecilla [HBA2: c.3G>T], Hb Gran Vía [HBA2: c.98T>G], Hb Macarena [HBA2: c.358C>T] and Hb El Retiro [HBA2: c.364_366dupGTG]: description of five new hemoglobinopathies. Clin Chem Lab Med. 2015;54(4):553–560.
  • Boursier G, Trouillier T, Blaizot MG, et al. A new high affinity variant Hb Aurillac (β141Leu→Val). Hemoglobin. 2013;37(6):584–588.
  • Giambona A, Vinciguerra M, Cassarà F, et al. Hb Marineo [β70(E14)Ala→Val]: a silent hemoglobin variant with a mutation within the heme pocket. Hemoglobin. 2006;30(2):139–148.
  • Kumar MK, Judd C, Hoyer JD, et al. Hb Manukau [β67(E11)Val→Gly; HBB: c.203T>G]: the role of genetic testing in the diagnosis of idiopathic hemolytic anemia. Hemoglobin. 2014;38(3):211–212.
  • Vinciguerra M, Passarello C, Leto F, et al. Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling. Eur J Haematol. 2015;94(4):322–329.
  • Posterano A, Gottfried EL. The diagnostic significance of a prolonged erythrocytic glycerol lysis time (GLT50). Am J Clin Pathol. 1978;70(4):637–641.
  • Adhiyanto C, Hattori Y, Yamashiro Y, et al. Oxidation status of β-thalassemia trait and Hb H disease, and its association with glycerol lysis time (GLT50). Hemoglobin. 2013;38(3):169–172.
  • Giambona A, Passarello C, Renda D, et al. The significance of the Hemoglobin A2 value in screening for hemoglobinopathies. Clin Biochem. 2009;42(19):1786–1796.
  • Carrel RW, Kay R. A simple method for the detection of unstable haemoglobins. Br J Haematol. 1972;23(5):615–619.
  • Basset, P, Beuzard, Y, Garel, M, et al. Isoelectric focusing of human hemoglobin: its application to screening, to the characterization of 70 variants, and to the study of modified fractions of normal hemoglobins. Blood. 1978;51(5):971–982.
  • Alter BP. Fetal erythrophoiesis in stress hematophoiesis. Exper Hematol. 1979;7(5):200–209.
  • Akinsheye I, Alsultan A, Solovieff N, et al. Fetal hemoglobin in sickle cell anemia. Blood. 2011;118(1):19–27.
  • HbVar: A database of human hemoglobin variants and thalassemias [Internet]. [cited 12 May 2016]. Available from: http://globin.bx.psu.edu/hbvar/menu.html.
  • Beutler E, Lang A, Lehmann H. Hemoglobin Duarte:(α2β262(E6)Ala→Pro): a new unstable hemoglobin with increased oxygen affinity. Blood. 1974;43(4):527–535.
  • Kiger L, Kister J, Groff P, et al. Hb J-Europa [β62(E6)Ala→Asp]: normal oxygen binding properties in a new variant involving a residue located distal to the heme. Hemoglobin. 1996;20(2):135–140.
  • Fujii J. Hemogloenzymopathies. In: Fujii J, Takasou Y, Eds. Erythrocyte [in Japanese]. Tokyo (Japan): Igakushoin; 1998:195–212.
  • Nakashima K, Ono J, Abe S, et al. G6PD Ube, a glucose-6-phosphate dehydrogenase variant found in four unrelated Japanese families. Am J Hum Genet. 1977;29(1):24–30.
  • Beutler E. G6PD deficiency. Blood. 1994;84(11):3613–3636.
  • Maehara T, Tsukamoto N, Nojima Y, et al. Enhanced haemolysis with β-thalassaemia trait due to the unstable β chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4.1 deficiency in a Japanese family. Br J Haematol. 2002;117(1):193–197.
  • Adhiyanto C, Yamashiro Y, Hattori Y, et al. A new β0-thalassemia mutation (codon 102, AAC>ATCAC) in coexistence with a heterozygous P4.2 Nippon gene. Hemoglobin. 2013;37(3):227–240.
  • Ku CS, Cooper DN, Polychronakos C, et al. Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol. 2012;7(1):5–14.
  • Nitta T, Kawano F, Yamashiro Y, et al. A new Krüppel-like factor 1 mutation (c.947G>A or p.C316Y) in humans causes β-thalassemia minor. Hemoglobin. 2015;39(2):121–126.

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