Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene

References

• Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet. 2012;379(9813):373–383.
   PubMed Web of Science ®Google Scholar
• Muncie HL Jr, Campbell J. α and β thalassemia. Am Fam Physician. 2009;80(4):339–344.
   PubMed Web of Science ®Google Scholar
• Zhang J, Zhu BS, He J, et al. The spectrum of α- and β-thalassemia mutations in Yunnan Province of Southwestern China. Hemoglobin. 2012;36(5):464–473.
   PubMed Web of Science ®Google Scholar
• Cai R, Li L, Liang X, et al. Prevalence survey and molecular characterization of α and β thalassemia in Liuzhou city of Guangxi. Chinese J Epidemiol. 2002;23(4):281–285.
   Google Scholar
• Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of α and β thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004;57(5):517–522.
   PubMed Web of Science ®Google Scholar
• Xie J, Zhou Y, Xiao Q. Rare genotype and intermediate β of thalassemia for family analysis. Chinese J Pediatr. 2016;3(3):223–224.
   Google Scholar
• Huang H, Guo D, Lin N. Mutation analysis of rare β thalassemia gene in two Chinese species. Chinese J Lab Med. 2013;36(10):939–941.
   Google Scholar
• Chen B, Deng J, Qin Q. Molecular diagnosis of a rare β thalassemia gene – 86(C>G) mutation family. Chinese J Lab Med. 2013;36(5):438–440.
   Google Scholar
• Pan G, Li Z, Shen Y. The new β-thalassemia gene mutation (CD87–CD91 or CD88–CD92) 1 case. Chinese J Fam Plan. 2012;20(6):423.
   Google Scholar
• Zhu C, Ding H, Zheng H. A mutation analysis of the rare β-globin-induced anemia in Guilin area. J Appl Clin Pediatr. 2012;3(3):176–178.
   Google Scholar
• Wu L, Peng Z, Lu S, et al. β Thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: a case report. Mol Med Rep. 2017;16(5):6552–6557.
   PubMed Web of Science ®Google Scholar
• Liu J, Huang Y, Lei Y, et al. Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] and Codons 41/42 (-TTCT; HBB: c.124_127delTTCT) in a Chinese Girl. Hemoglobin. 2017;41(2):134–136.
   PubMed Web of Science ®Google Scholar
• Jiang H, Yan JM, Zhou JY, et al. Hb Alesha [β67(E11)Val→Met (GTG>ATG); HBB: c.202G >A] Found in a Chinese Girl. Hemoglobin. 2016;40(6):420–421.
   PubMed Web of Science ®Google Scholar
• Pedroso GA, Kimura EM, Santos MNN, et al. Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 patchwork allele in a Brazilian child with severe congenital hemolytic anemia. Hemoglobin. 2017;41(3):203–208.
   PubMed Web of Science ®Google Scholar
• Kano G, Morimoto A, Hibi S, et al. Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy. Int J Hematol. 2004;80(5):410–415.
   PubMed Web of Science ®Google Scholar
• Rees DC, Rochette J, Schofield C, et al. A novel silent posttranslational mechanism converts methionine to aspartate in Hemoglobin Bristol (β67[E11]Val-Met→Asp). Blood. 1996;88(1):341–348.
   PubMed Web of Science ®Google Scholar
• Miyazaki A, Nakanishi T, Kishikawa M, et al. Post-translational modification from methionine to aspartic acid-residue on a variant hemoglobin, Hb Bristol, a proof by ESI-MS-MS. J Mass Spectrom. 1996;31(11):1311–1313.
   PubMed Web of Science ®Google Scholar
• Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucl Acids Res. 2014;42(Database issue):D1063–D1069. (http://globin.cse.psu).
   PubMed Web of Science ®Google Scholar
• Chen X, Yecheng L, Chu D. Automatic capillary electrophoresis and agarose electrophoresis comparison of hemoglobin measurement. Guangdong Med. 2009;30(5):778–780.
   Google Scholar
• Li Y, Yang T, Ling X. 14 Cases of constant spring type hemoglobin complexed β-thalassemia Analysis of hematological phenotype and genetic characteristics in patient. Chinese J Hematol. 2013;12(12):1067–1069.
   Google Scholar
• Hyde RD, Hall MD, Wiltshire BG, et al. Haemoglobin Southampton, 106 (G8) Leu→Pro: an unstable variant producing severe haemolysis. Lancet. 1972;2(7788):1170–1172.
   PubMed Web of Science ®Google Scholar
• Costandi AJ, Mahmoud M. Unexpected falsely low pulse oximeter measurements in a child with Hemoglobin Southampton. J Clin Anesth. 2016;33:320–321.
   PubMed Web of Science ®Google Scholar
• Haque A, Quint DJ, Castle VP, et al. Another rare unstable hemoglobinopathy: Hemoglobin Casper/Southampton associated with moyamoya disease. Cerebrovasc Dis Extra. 2015;5(2):52–54.
   PubMed Web of Science ®Google Scholar
• Pereira JA, Lopez P, Costa FF, et al. Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman. Rev Bras Hematol Hemoter. 2013;35(2):146–147.
   PubMedGoogle Scholar
• Delavari N, Strahle J, Maher CO. Moyamoya syndrome associated with Hemoglobin Southampton (Casper). Pediatr Neurosurg. 2013;49(5):307–310.
   PubMed Web of Science ®Google Scholar
• Avalos Gómez V, Eandi Eberle S, Pepe C, et al. Severe hemolytic anemia due to Hemoglobin Southampton: case report. Arch Argent Pediatr. 2012;110(5):e91–e94.
   PubMed Web of Science ®Google Scholar
• Eandi Eberle S, Noguera NI, Sciuccati G, et al. Hb Southampton [β106(G8)Leu→Pro, CTG→CCG] in an Argentinean boy. Hemoglobin. 2006;30(3):401–403.
   PubMed Web of Science ®Google Scholar
• Heintz NH, Howard PL. Hemoglobin Southampton (Casper): characterization of the base mutation. Am J Hematol. 1989;30(1):1–3.
   PubMed Web of Science ®Google Scholar
• Didkovskiĭ N, A, Idel’son LI, Filippova AV, et al. A new case of the unstable Hemoglobin Southampton–Casper (β106) (G68) leucine–proline). Probl Gematol Pereliv Krovi. 1976;21(6):48–50.
   PubMedGoogle Scholar
• Wajcman H, Gacon G, Labie D, et al. Isolation and functional characterization of Hemoglobin Casper: β106(G8)Leu→Pro. Biochemistry. 1975;14(22):5017–5020.
   PubMed Web of Science ®Google Scholar
• Koler RD, Jones RT, Bigley RH, et al. Hemoglobin Casper: β106(G8)Leu→Pro; a contemporary mutation. Am J Med. 1973;55(3):549–558.
   PubMed Web of Science ®Google Scholar
• Jones RT, Koler RD, Duerst M, et al. Hemoglobin Casper G8 106 Leu→Pro: further evidence that hemoglobin mutations are not random. Adv Exp Med Biol. 1972;28:79–98.
   PubMedGoogle Scholar
• Hamid M, Zargan Nezhad E, Galehdari H, et al. first report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian patient. Iran Biomed J. 2019;23 [in press].
   PubMedGoogle Scholar
• Eandi Eberle S, Noguera NI, Sciuccati G, et al. Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl[. Hemoglobin. 2007;31(3):379–382.
   PubMed Web of Science ®Google Scholar
• Brockmann K, Stolpe S, Fels C, et al. Moyamoya syndrome associated with hemolytic anemia due to Hb Alesha. J Pediatr Hematol Oncol. 2005;27(8):436–440.
   PubMed Web of Science ®Google Scholar
• Molchanova TP, Postnikov YV, Pobedimskaya DD, et al. Hb Alesha or α2β267(E11)Val→Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA. Hemoglobin. 1993;17(3):217–225.
   PubMed Web of Science ®Google Scholar
• Aseeva EA, Lutsenko IN, Pivnik AV, et al. Congenital hemolytic anemia caused by the carriage of Hemoglobin Bristol β67 Bal→Asp. Ter Arkh. 1992;64(7):78–81. [Russian]
   PubMed Web of Science ®Google Scholar
• Ohba Y, Matsuoka M, Miyaji T, et al. Hemoglobin Bristol or β67(E11)Val→ASP in Japan. Hemoglobin. 1985;9(1):79–85.
   PubMed Web of Science ®Google Scholar
• Sakuragawa M, Ohba Y, Miyaji T, et al. A Japanese boy with hemolytic anemia due to an unstable hemoglobin (Hb Bristol.). Nihon Ketsueki Gakkai Zasshi. 1984;47(4):896–902.
   PubMedGoogle Scholar
• Steadman JH, Yates A, Huehns ER. Idiopathic Heinz body anaemia: Hb-Bristol (β67(E11) Val→Asp). Br J Haematol. 1970;18(4):435–446.
   PubMed Web of Science ®Google Scholar