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Research Article

Methods for Detection of Hemoglobin Variants and Hemoglobinopathies in the Routine Clinical Laboratory

Pages 243-271 | Published online: 27 Sep 2008

References

  • Pauling L., Itano H. A., Singer S. J., Wells I. C. Sickle cell anemia; a molecular disease. Science 1949; 110: 543
  • Ingram V. M. Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell hemoglobins. Biochim. Biophys. Acta 1959; 36: 402
  • Baglioni C., Ingram V. M. Abnormal human haemoglobins. V. Chemical investigation of haemoglobins A, G, C, X from one individual. Biochim. Biophys. Acta 1961; 48: 253
  • Bowman B. H., Moreland H., Schneider R. G. A new haemoglobin variant (G Galveston). Nature (London) 1962; 193: 1298
  • Huisman T. H. J., Adams H. R., Wilson J. B., Efremov G. D., Reynolds C. A., Wrightstone R. N. Haemoglobin G Georgia or α2 95 Leu (G 2) β2. Biochim. Biophys. Acta 1970; 200: 578
  • Sick K., Beale D., Irvine D., Lehmann H., Goodall P. T., MacDougall S. Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new β-chain variants of haemoglobin A. Biochim. Biophys. Acta 1967; 140: 231
  • Schneider R. G., Haggard M. E. A new haemoglobin variant in an American Negro. Br. Med. J. 1959; 2: 285
  • Bowman B. H., Barnett D. R., Hodgkinson K. T., Schneider R. G. Chemical characterization of hemoglobin St. I. Nature (London) 1966; 211: 1305
  • Minnich V., Cordonnier J. K., Williams W. J., Moore C. V. Alpha, beta and gamma hemoglobin polypeptide chains during the neonatal period with description of a fetal form of hemoglobin D St. Louis. Blood 1962; 19: 137
  • Schroeder W. A., Huisman T. H. J., Shelton J. R., Shelton J. B., Kleihauer E. F., Dozy A. M., Robberson B. Evidence for multiple structural genes for the γ chain of human fetal hemoglobin. Proc. Natl. Acad. Sci. U.S.A. 1968; 60: 537
  • Perutz M. F., Mitchison J. M. State of haemoglobin in sickle-cell anaemia. Nature(London) 1950; 166: 677
  • Finch J. T., Perutz M. F., Bertles J. F., Dobler J. Structure of sickled erythrocytes and sickle-cell hemoglobin fibers. Proc. Natl. Acad. Sci. U.S.A. 1973; 70: 718
  • Ahern E., Ahern V., Holder W., Palomino E., Serjeant G. R., Serjeant B. E., Forbes M., Brimhall B., Jones R. T. Haemoglobin Spanish Town α27 Glu→Val (B8). Biochim. Biophys. Acta 1976; 427: 530
  • Lin-Fu J. S. Sickle Cell Anemia, a Medical Review. Publ. no. (HSM), Department of Health, Education, and Welfare, Washington, D.C. 1972; 72–5111
  • Charache S., Conley C. L., Waugh D. F., Ugovetz R. J., Spurrell J. R., Gayle E. Pathogenesis of hemolytic anemia in homozygous Hb C disease. J. Clin. Invest 1967; 46: 1795
  • Smith E. W., Krevans J. R. Clinical manifestations of Hb C disorders. Bull. Johns Hopkins Hosp. 1959; 104: 17
  • Schneider R. G., Ueda S., Alperin J. B., Levin W. C., Jones R. T., Brimhall B. Hemoglobin D Los Angeles in two Caucasian families: hemoglobin S D disease and hemoglobin D thalassemia. Blood 1968; 32: 250
  • Ramot B., Fisher S., Remez D., Schneerson R., Kahane D., Ager J. A. M., Lehmann H. Haemoglobin O in an Arab family. Br. Med. J. 1960; 2: 1262
  • Milner P. F., Miller C., Grey R., Seakins M., Dejong W. W., Went L. N. Hemoglobin O Arab in four Negro families and its interaction with hemoglobin S and hemoglobin. C, N. Engl. J. Med. 1970; 283: 1417
  • Aksoy M. The haemoglobin E syndromes. II. Sickle-cell hemoglobin E disease. Blood 1960; 15: 610
  • Konotey-Ahulu F. I. D., Gallo E., Lehmann H., Ringelhann B. Haemoglobin Korle-Bu (Beta 73 aspartic acid→asparagine). Showing one of the two amino acid substitutions of haemoglobin C Harlem. J. Med. Genet. 1968; 5: 107
  • McCurdy P. R., Lorkin P. A., Casey R., Lehmann H., Uddin D. E., Dickson L. G. Hemoglobin S-G (S-D) syndrome. Am. J. Med. 1974; 57: 665
  • Blackwell R. Q., McCurdy P. R., Leu C. S., Wang C. L., Huang J. T. H. Double heterozygosity for hemoglobin Camden (β31 Gln→Glu) and hemoglobin S in an American Negro. Vox Sang. 1975; 28: 50
  • Bookchin R. M., Nagel R. L., Ranney H. M. Structure and properties of hemoglobin C Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the β-polypeptide chain. J. Biol. Chem. 1967; 242: 248
  • Robinson A. R., Robson M., Harrison A. P., Zuelzer W. W. A new technique for differentiation of hemoglobin. J. Lab. Clin. Med. 1957; 50: 745
  • Milner P. F., Gorden H., General R. T. Rapid citrate-agar electrophoresis in routine screening for hemoglobinopathies using a simple hemolysate. Am. J. Clin. Pathol. 1975; 64: 58
  • Schneider R. G., Hosty T. S., Tomlin G., Atkins R. Identification of hemoglobins and hemoglobinopathies by electrophoresis on cellulose acetate plates impregnated with citrate agar. Clin. Chem. 1974; 20: 74
  • Babin D. R., Jones R. T., Schroeder W. A. Hemoglobin D Los Angeles: α2Aβ2121 Glu NH2. Biochim. Biophys. Acta 1964; 86: 136
  • Ueda S., Schneider R. G. Rapid differentiation of polypeptide chains of hemoglobin by cellulose acetate electrophoresis of hemolysates. Blood 1969; 34: 230
  • Schneider R. O. Differentiation of electrophoretically similar hemoglobins – such as S, D, G and P; or A2, C, E and O by electrophoresis of the globin chains. Clin. Chem. 1974; 20: 111
  • Baglioni C., Lehmann H. Chemical heterogeneity of haemoglobin O. Nature(London) 1962; 229
  • Halbrecht I., Isaacs W. A., Lehmann H., Ben-Porat F. Hemoglobin Hasharon (α47 aspartic acid → histidine). Isr. J. Med. Sci. 1967; 3: 827
  • Sukumaran P. K., Merchant S. M., Desi M. P., Wiltshire B. G., Lehmann H. Haemoglobin Q (α64 (E13) aspartic acid → histidine) associated with β-thalassemia in three Sindhi families. J. Med. Genet. 1972; 9: 436
  • Lorkin P. H., Charlesworth D., Lehmann H., Rahbar S., Tuchinda S., Lie Injo L. B. Two haemoglobins Q, α74 (EF3) and α75 (EF4) aspartic acid → histidine, Br. J. Haematol. 1970; 19: 117
  • Pootrakul S., Dixon G. H. Hemoglobin Mahidol: a new hemoglobin α-chain mutant. Can. J. Biochem. 1970; 48: 1066
  • Schneider R. G. Report of working party on screening for hemoglobins of public health importance. Proc. 16th Int. Cong. Hematology. Excerpta Medica, 1976, Int. Cong. Ser. No. 415
  • Baglioni C. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. proc. Natl. Acad. Sci. U.S.A. 1962; 8: 1880
  • Schneider R. G., Hightower B., Hosty T. S., Ryder H., Tomlin G., Atkins R., Brimhall B., Jones R. T. Abnormal hemoglobins in a quarter million people. Blood 1976; 48: 629
  • Beale D., Lehmann H. Abnormal haemoglobins and the genetic code. Nature (London) 1965; 207: 259
  • Benesch R. E., Yung S., Benesch R., Mack J., Schneider R. G. α-Chain contacts in the polymerisation of sickle haemoglobin. Nature (London) 1976; 260: 219
  • Baglioni C., Weatherall D. J. Abnormal human hemoglobins. IX. Chemistry of hemoglobin J Baltimore. Biochim. Biophys. Acta 1963; 78: 637
  • Clegg J. B., Naughton M. A., Weatherall D. J. An improved method for the characterization of human haemoglobin mutants: identification of α2β2 95Glu, haemoglobin N (Baltimore). Nature (London) 1965; 207: 945
  • Efremov G. D., Huisman T. H. J., Bowman K., Wrightstone R. N., Schroeder W. A. Microchromatography of hemoglobins. II. A rapid method for the determination of hemoglobin A2. J. Lab. Clin. Med. 1974; 83: 657
  • Marengo-Rowe A. J. Rapid electrophoresis and quantitation of hemoglobins in cellulose acetate. J. Clin. Pathol. 1965; 18: 790
  • Betke K., Marti H., Schlicht I. Estimation of small percentages of foetal haemoglobin. Nature (London) 1959; 184: 1877
  • Schneider R. G. Developments in laboratory diagnosis. Sickle Cell Disease, Diagnosis, Management, Education and Research, H. Abraham, J. F. Bertles, D. L. Withers. C. V. Mosby, St Louis 1973; 230
  • Davis L. R. Changing blood picture in sickle cell anemia from shortly after birth to adolescence. J. Clin. Pathol. 1976; 29: 898
  • Abraham E. C., Reese A., Stallings M., Huisman T. H. J. Separation of human hemoglobins by DEAE-cellulose chromatography using glycine - KCN - NaCl developers. Hemoglobin 1976; 1: 27
  • Schneider R. G., Ueda S., Alperin J. B., Brimhall B., Jones R. T. Hemoglobin Sabine Beta 91 (F 7) Leu→Pro; an unstable variant causing severe anemia with inclusion bodies. N. Engl. J. Med. 1969; 280: 739
  • Carrell R. W. The detection of unstable hemoglobins. Abnormal haemoglobins and thalassaemia, R. M. Schmidt. Academic Press, New York 1975
  • Morimoto H., Lehmann H., Perutz M. F. Molecular pathology of human haemoglobins: stereochemical interpretation of abnormal oxygen affinities. Nature(London) 1971; 232: 408
  • Jayalakshmi M., Smith L. L., Wilson J. B., Schneider R. G., Huisman T. H. J. Some properties of hemoglobin Gun Hill. Hemoglobin 1977; 1: 267
  • Schneider R. G., Hettig M., Bilunos M., Brimhall B. Hemoglobin Baylor [α2β281 (EF 5) Leu→Arg]. An unstable mutant with high oxygen affinity. Hemoglobin 1976; 1: 85
  • Lang A., White J. M., Lehmann H. Synthesis of Hb Lepore (α2δβ2) Influence of δ and β nucleotide sequences on synthesis of δβ chain. Nature (London) New Biol. 1972; 240: 268
  • Jones R. T., Schroeder W. A., Balog J. E., Vinograd J. R. Gross structure of Hb H. J. Am. Chem. Soc 1959; 81: 3161
  • Ager J. A. M., Lehmann H. Observations on some “fast” haemoglobins K. J. N and Bart's. Br. Med. J. 1958; 1: 929
  • Charache S., Conley C. L. Hereditary persistence of fetal hemoglobin. Second Conference on the Problems of Cooley's Anaemia, H. Fink. Annals of the New York Academy of Sciences, New York 1969; Vol. 165: 37
  • Schneider R. G., Hosty T. S., Tomlin G., Atkins R., Brimhall B., Jones R. T. Electrophoretically Detectable Hemoglobins in About 146,000 Blood Samples. Homozygosity for Hb C and Simultaneous Heterozygosity for Hb G Philadelphia. Int. Istanbul Symp. Abnormal Hemoglobins and Thalassemia. August 24 to 27, Aksoy, Muzaffer. Istanbul, 1974
  • Schneider R. G., Haggard M. E., Gustavson L. P., Brimhall B., Jones R. T. Genetic haemoglobin abnormalities in about 9,000 black and 7,000 white newborns; haemoglobin F Dickinson (A, 7 His→Arg), a new variant. Br. J. Haematol. 1974; 28: 515
  • Schroeder W. A., Jakway J., Powars D. Detection of Hb S & C at birth; a rapid screening procedure by column chromatography. J. Lab. Clin. Med., in press
  • Fessas P., Loukopoulos D., Kaltsoya A. Peptide analysis of the inclusions of erythroid cells in B-thalassemia. Biochim. Biophys. Acta 1966; 124: 430
  • Pearson H. A., Spencer R. P., Cornelius E. A. Functional asplenia in sickle cell anemia. N. Engl. J. Med. 1969; 281: 923
  • Schneider R. G., Takeda I., Gustavson L. P., Alperin J. B. Intraerythrocytic precipitations of haemoglobins S and C. Nature (London), New Biol. 1972; 235: 88
  • Nathan D. G. Rubbish in the red cell. N. Engl. J. Med. 1969; 281: 558
  • Kleihauer E., Braun H., Betke K. Demonstration von fetalem heemoglobin in den erythrocyten eines blutaus-strichs. Klin. Wochenschr. 1957; 35: 637
  • Schneider R. G., Brimhall B., Jones R. T., Bryant R., Mitchell C. B., Goldberg A. I. Hb Ft. Worth: 27 Glu→Gly. A variant present in unusually low concentration. Biochim. Biophys. Acta, 243: 264, 2971
  • Efremov G. D., Huisman T. H. J., Smith L. L., Wilson J. B., Kitchens J. L., Wrightstone R. N., Adams H. R. Hemoglobin Richmond, a human hemoglobin which forms hybrids with other hemoglobins. J. Biol. Chem. 1969; 244: 6105
  • Righetti P. G., Drysdale J. W. Isoelectric focusing in gels. J. Chromatogr. 1974; 98: 271
  • Garver F. A., Baker M. M., Jones C. S., Gravely M., Altay G., Huisman T. H. J. Radioimmunoassay for abnormal hemoglobins. Science 1977; 196: 1334
  • Nastev C, Efremov G. D., Petkov G. A test tube method for quantitation of Hemoglobin A2 using DE 52 cellulose. Hemoglobin 1977; 1: 445
  • Schneider C. T. H., Mayson S. M., Huisman T. H. J. Further modification of the microchromatographic determination of hemoglobin A2. Hemoglobin 1977; 1: 503
  • Bernstein S. C., Bowman J. E., Swift H. H. Modification of the acid elution technique for quantitation of fetal hemoglobin in individual erythrocytes. Hemoglobin 1977; 1: 313
  • Asakura T., Adachi K., Sono M., Friedman S., Schwartz E. Mechanical stability of hemoglobin subunits: an abnormality in βδ subunits of sickle hemoglobin. Biochem. Biophys. Res. Commun. 1974; 57: 780
  • Roth E. F., Jr., Elbaum D., Nagel R. L. Observations on the mechanical precipitation of Oxy Hb S and other mutants. Blood 1975; 45: 377
  • Schneider R. G. Identification of hemoglobins by electrophoresis. The Detection of Hemoglobinopathies, R. M. Schmidt, T. H. J. Huisman, H. Lehmann. CRC Press, Cleveland 1974; 11
  • England J. M., Fraser P. M. Differentiation of iron deficiency from thalassemia trait, by routine blood count. Lancet 1973; 1: 449
  • Pearson H. A., O'Brien R. T., McIntosh S. Screening for thalassemia trait by electronic measurement of mean corpuscular volume. N. Eng. J. Med. 1973; 288: 351
  • Shine I., Lai S. A strategy to detect β-thalassemia minor. Lancet 1977; 1: 696

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