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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 3
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Original Article

Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography

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Pages 143-149 | Received 21 Oct 2015, Accepted 16 Dec 2015, Published online: 31 Mar 2016

References

  • The effect of intensive treatment of diabetes on the development and progression of long term complications in insulin dependent diabetes mellitus. The Diabetes Control and Complications Trial Research Group. N Engl J Med. 1993;329(14):977–986
  • Ou CN, Rognerud CL. Rapid analysis of hemoglobin variants by cation-exchange HPLC. Clin Chem. 1993;39(5):820–824
  • Leone L, Monteleone M, Gabutti V, Amione C. Reversed-phase high-performance liquid chromatography of human hemoglobin chains. J Chromatogr. 1985;32(2):407–419
  • Wild BJ, Bain BJ. Investigation of abnormal haemoglobins and thalassaemia. In: Bain BJ, Bates I, Laffan MA, Lewis MS, Eds. Dacie and Lewis Practical Haematology, 11th ed. London, UK: Elsevier, Churchill Livingstone. 2011:318–319
  • Bain BJ, Swirsky D. Erythrocyte and leucocyte cytochemistry. In: Bain BJ, Bates I, Laffan MA, Lewis MS, Eds. Dacie and Lewis Practical Haematology, 11th ed. London, UK: Elsevier, Churchill Livingstone. 2011:336–337
  • Lichtman MA, Murphy MS, Adamson JW. Detection of mutant hemoglobins with altered affinity for oxygen. A simplified technique. Ann Intern Med. 1976;84(5):517–520
  • Garrod A. The lessons of rare maladies: Annual oration before the medical society of London by Sir Archibald Garrod. Br Med J. 1928;1(3516):914–915
  • Mercadanti M, Caleffi A, Bonilauri E, Monica C. Riscontro di emoglobine anomale utilizzando un test dedicato per HbA1c. RIMeL-IJLaM. 2008;4(4):285–293. (http://www.sipmel.it.it.riviste/)
  • Reeve J, Blake L, Griffin D, O’Shea P. Incidental detection of haemoglobin (Hb) variants during high performance liquid chromatography (HPLC) analysis of HbA1c: Is it time for a standardised approach to reporting? Ir J Med Sci. 2015;184(2):353–355
  • Bouzid K, Ahmed HB, Kalai E, et al. Prevalence of hemoglobin variants in a diabetic population at high risk of hemoglobinopathies and optimization of HbA1c monitoring by incorporating HPLC in the laboratory workup. Libyan J Med. 2014;9:25768
  • Saw S, Loh TP, Yin C, Sethi SK. Identification of hemoglobin variants in samples received for glycated hemoglobin testing. Clin Chim Acta. 2013;415:173–175
  • Borgstahl GE, Rogers PH, Arnone A. The 1.8 Å structure of carbonmonoxy-β4 hemoglobin. J Mol Biol. 1994;236(3):817–830
  • Dickerson RE, Geis I. Hemoglobin: Structure, Function, Evolution, and Pathology (Benjamin/Cummings Series in the Life Sciences). Menlo Park, CA, USA: Benjamin/Cummings Publishing Company, 1983:65–112
  • Yasuda Jp, Ichikawa T, Tsuruga M, et al. The α1β1 contact of human hemoglobin plays a key role in stabilizing the bound dioxygen. Further evidence from the iron valency hybrids. Eur J Biochem. 2002;269(1):202–211
  • Shikama K, Matsuoka A. Human haemoglobin. A new paradigm for oxygen binding involving two types of ɑβ contacts. Eur J Biochem. 2003;270(20):4041–4051
  • Xu C, Tobi D, Bahar I. Allosteric changes in protein structure computed by a simple mechanical model: Hemoglobin T<->R2 transition. J Mol Biol. 2003;333(1):153–168
  • Sugawara Y, Yamada M, Ueno E, et al. New roles assigned to the ɑ1-β1 (and ɑ2-β2) interface of the human hemoglobin molecule from physiological to cellular. Appl Sci. 2011;1(1):13–55
  • Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537–D541. (http://globin.cse.psu.edu)
  • Como PF, Wylie BR, Trent RJ, et al. A new unstable and low oxygen affinity hemoglobin variant: Hb Stanmore [β111(G13)Val→Ala]. Hemoglobin. 1991;15(1–2):53–65
  • Miyazaki A, Nakanishi T, Shimizu A, Hisamitsu H. First case of a single heterozygote of an abnormal hemoglobin, Hb Stanmore, [β111(G13)Val→Ala]. J Chromatogr B Analyt Technol Biomed Life Sci. 2003;792(1):23–31
  • King MA, Wiltshire BG, Lehmann H, Morimoto H. An unstable haemoglobin with reduced oxygen affinity: Haemoglobin Peterborough β111(G13)Valine→Phenylalanine, its interaction with normal haemoglobin and Haemoglobin Lepore. Br J Haematol. 1972;22(2):125–134
  • Nakanishi T, Miyazaki A, Kishikawa M, et al. Hb Peterborough [β111(G13)Val→Phe] in Japan; Rapid identification by ESI/MS using proteolytic digests of oxidized globin. Hemoglobin. 1998;22(1):23–35
  • Qin WB, Pobedimskaya DD, Molchanova TP, et al. Hb Fannin-Lubbock in five Spanish families is characterized by two mutations: β111 GTC→CTC (Val→Leu) and β119 GGC→GAC (Gly→Asp). Hemoglobin 1994;18(4–5):297–306
  • Gonzales FA, Ropero P, Arrizabalaga B, et al. Fannin-Lubbock II hemoglobin [β111(G13)Val→Leu y β119(GH2)Gly→Asp]: Description of 4 new cases. (Spanish) Med Clin (Barc). 2007;129(10):379–381
  • Schneider RG, Berkman NL, Brimhall B, Jones RT. Hemoglobin Fannin-Lubbock [ɑ2β2119(GH2)Gly→Asp]. A slightly unstable mutant. Biochim Biophys Acta. 1976;453(2):478–483
  • Pagano L, Lacerra G, Camardella L, et al. Hemoglobin Neapolis, β126(H4)Val→Gly: A novel β-chain variant associated with a mild β-thalassemia phenotype and displaying anomalous stability features. Blood. 1991;78(11):3070–3075
  • Bardakdjian-Michau J, Fucharoen S, Delanoe-Garin J, et al. Hemoglobin Dhonburi ɑ2β2126(H4)Val→Gly: A new unstable β variant producing a β-thalassemia intermedia phenotype in association with β0-thalassemia. Am J Hematol. 1990;35(2):96–99
  • Qualtieri A, Le PM, Pedace V, et al. Hb Molfetta [β126(H4)Val→Leu, GTG→CTG]: A new, silent, neutral β chain variant found in an Italian woman. Hemoglobin. 2002;26(1):7–12
  • Strahler JR, Rosenbloom BB, Hanash SM. A silent, neutral substitution detected by reverse-phase high-performance liquid chromatography: Hemoglobin Beirut. Science. 1983;221(4613):860–862
  • Blibech R, Mrad H, Kastally R, et al. Hemoglobin Beirut [ɑ2β2126(H4)Val→Ala in an Algerian family. Hemoglobin. 1986;10(6):651–654
  • Brittenham G, Lozoff B, Harris JW, et al. Hemoglobin Hofu or ɑ2β2126(H4)Val→Glu found in combination with Hemoglobin S. Hemoglobin. 1978;2(6):541–549
  • Russo FM, John ME, Waterman MR, et al. Hemoglobin Hofu (β126 Val→Glu) in a Black American. Hemoglobin. 1979;3(1):83–86
  • Wajcman H, Bost M, Blouquit Y, et al. Two new ɑ chain variants found during glycated hemoglobin screening: Hb Tatras [ɑ7(A5)Lys→Asn] and Hb Lisbon [ɑ23(B4)Glu→Asp]. Hemoglobin. 1994;18(6):427–432
  • Schnedl WJ, Reisinger EC, Lipp RW, et al. Hemoglobin variants recently detected in Austria. Ann Hematol. 1995;71(4):185–187
  • Wajcman H, Promé D, Préhu C, et al. Hb Les Andelys [ɑ83(F4)Leu→Pro]: A new moderately unstable variant. Hemoglobin. 1998;22(2):129–140
  • Moriwaki Y, Yamamoto T, Shibutani Y, et al. Abnormal haemoglobins, Hb Takamatsu and Hb G-Szuhu, detected during the analysis of glycated haemoglobin (Hb A1C) by high performance liquid chromatography. J Clin Pathol. 2000;53(11):854–857
  • O’Brien DA, Flynn CM, Chuk P, et al. Haemoglobin Etobicoke, an incidental finding in an Irish diabetic. Clin Lab Haematol. 2003;25(4):259–262
  • Miyazaki A, Nakanishi T, Shimizu A, et al. Hb Kochi [β141(H19)Leu→Val (g.1404 C→G); 144–146(HC1-3)Lys-Tyr-His→0 (g.1413 A→T)]: A new variant with increased oxygen affinity. Hemoglobin. 2005;29(1):1–10
  • Jung CL, Kwon KJ, Hong KS, et al. Hemoglobin Yamagata: Hemoglobin variant detected by HbA1c test. Korean J Lab Med. 2009;29(6):536–540
  • Kim SY, Kim GY, Jo SA, et al. A novel hemoglobin variant β135(H13)Ala→Asp identified in an asymptomatic Korean family by direct sequencing: Suggesting a new insight into Hb Beckman mutation. Int J Lab Hematol. 2010;32(1):175–178
  • Del Rey TH, Conde-Sánchez M, Ropero-Gradilla P, et al. Hemoglobin Seville [ɑ2β281(EF5)Leu→Phe] a silent phenotypic variant that interferes in Hemoglobin A1c measurement by ion-exchange HPLC method. Clin Biochem. 2011;44(10-11):933–935
  • Çelebiler A, Aksoy D, Ocakci S, Karaca B. A new hemoglobin variant: Hb Izmir [β86(F2)Ala→Val, GCC > GTC; HBB:c.260C > T]. Hemoglobin. 2012;36(5):474–479
  • Smith G, Murray H, Brennan SO. Identification of a rare variant haemoglobin (Hb Sinai-Baltimore) causing spuriously low Haemoglobin A1c values on ion exchange chromatography. Ann Clin Biochem. 2013;50(1):83–86
  • Van Zwieten R, Veldthuis M, Delzenne B, et al. Hemoglobin analyses in The Netherlands reveal more than 80 different variants including six novel ones. Hemoglobin. 2014;38(1):1–7
  • Brennan SO, Povall A, Lankes U. Hb Ashburton [β12(A9)Thr→Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12. Hemoglobin. 2014;38(2):79–83
  • Grimholt RM, Sudmann ÅA, Piehler AP, et al. Hb Ullevaal [β78(EF2)Leu→Val; HBB: c.235C > G], a new hemoglobin variant interfering with Hb A1c measurement using a cation exchange high performance liquid chromatography method. Hemoglobin. 2014;38(2):130–132
  • De la Fuente-Gonzalo F, Martínez Nieto J, Torrejón MJ, et al. Hb Burgos (ɑ1 CD64(E13)(Asp→Asn)): A new hemoglobin variant detected during follow-up of diabetic patients. (Spanish) Med Clin (Barc). 2015;144(1):26–29
  • Bots M, Stroobants AK, Delzenne B, et al. Two novel haemoglobin variants that affect Haemoglobin A1c measurement by ion-exchange chromatography. Clin Chem Lab Med. 2015;53(9):1465–1471
  • Ghallyan N, Donald T, Broad D, et al. Hb Feilding [β12(A9)Thr→Pro; HBB: c.37A > C]: A novel unstable β-globin chain variant. Hemoglobin. 2015;39(1):49–51

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