Cases of Unstable Hemoglobin and Methemoglobin Produced by De Novo Mutation

References

• Neel J. V., Satoh C., Hamilton H. B., Otake M., Goriki K., Kageoka T., Fujita M., Neriishi S., Asakawa S. Proc. Natl. Acad. Sci. U. S. A. 1980; 77: 4221
   PubMedGoogle Scholar
• Stamatoyannopoulos G., Nute P. E., Miller M. Human Genet 1981; 58: 396
   Web of Science ®Google Scholar
• Stamatoyannopoulos G., Nute P. E. Human Genet. 1982; 60: 181
   PubMedGoogle Scholar
• Opfell R. W., Lorkin P. A., Lehmann H. Hereditary non-spherocytic haemolytic anaemia with post-splenectomy inclusion bodies and pigmenturia caused by an unstable haemoglobin Santa Ana-β88 (F4) leucine→proline. J. Med. Genet 1968; 5: 292–297
   PubMedGoogle Scholar
• Fairbanks V. F., Opfell R. W., Burgert E. O., Jr. Three families with unstable hemoglobinopathies (Köln, Olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia. Am. J. Med 1969; 46: 344–359
   PubMed Web of Science ®Google Scholar
• Schneider R. G., Ueda S., Alperin J. B., Brimhall B., Jones R. T. Hemoglobin Sabine beta 91 (F7) Leu→Pro; an unstable variant causing severe anemia with inclusion bodies. New Engl. J. Med 1969; 280: 739–745
   PubMed Web of Science ®Google Scholar
• Miller D. R., Weed R. I., Stamatoyannopoulos G., Yoshida A. Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival. Blood 1971; 38: 715–729
   PubMed Web of Science ®Google Scholar
• Huisman T. H. J., Brown A. K., Efremov G. D., Wilson J. B., Reynolds C. A., Uy R., Smith L. L. Hemoglobin Savannah (B6(24) β-glycine-tvaline): an unstable variant causing anemia with inclusion bodies. J. Clin. Invest 1971; 50: 650–659
   PubMed Web of Science ®Google Scholar
• Koler R. D., Jones R. T., Bigley R. H., Litt M., Lovrien E., Brooks R., Lahey M. E., Fowler R. Hemoglobin Casper: β 106 (G8) Leu→Pro: a contemporary mutation. Am. J. Med 1973; 55: 549–558
   PubMed Web of Science ®Google Scholar
• Honig G. R., Green D., Shamsuddin M., Vida L. N., Mason R. G., Gnarra D. J., Maurer H. S. Hemoglobin Abraham Lincoln, β32 (B14) leucine→proline: an unstable variant producing severe hemolytic disease. J. Clin. Invest 1973; 52: 1746–1755
   PubMed Web of Science ®Google Scholar
• Schneider R. G., Hettig R. A., Bilunos M., Brimhall B. Hemoglobin Baylor α2β281 (EF5) Leu→Arg–an unstable mutant with high oxygen affinity. Hemoglobin 1976; 1: 85–96
   PubMed Web of Science ®Google Scholar
• Bradley T. B., Wohl R. C., Murphy S. B., Oski F. A., Bunn H. F. Properties of hemoglobin Bryn Mawr, β85 Phe→Ser, a new spontaneous mutation producing an unstable hemoglobin with high oxygen affinity. Blood 1972; 40: 947
   Web of Science ®Google Scholar
• Smiley R. K., Gravely M. E., Wilson J. B., Huisman T. H. J. Hemoglobin Louisville (β42 (CD1) Phe→Leu occurring as a fresh mutation in a Canadian woman. Hemoglobin 1978; 2: 89–90
   PubMed Web of Science ®Google Scholar
• Wong S. C., Ali M. A. M., Pai M., Barr R. D. A new case of the unstable haemoglobin Genova (α2β2 28(B10) Leu→Pro in Canada: as a result of sporadic mutation and causing Heinz body hemolytic anaemia. Acta Haematol 1980; 63: 222–225
   PubMedGoogle Scholar
• Dacie J. V., Shinton N. K., Gaffney P. J., Jr., Carrell R. W., Lehmann H. Haemoglobin Hammersmith (β42 (CD1) Phe→Ser). Nature 1967; 216: 663–665
   PubMed Web of Science ®Google Scholar
• Carrell R. W., Lehmann H. The unstable haemoglobin haemolytic anaemias. Sem. Hematol. 1969; 6: 116–132
   PubMed Web of Science ®Google Scholar
• Steadman J. H., Yates A., Huehns E. R. Idiopathic Heinz body anaemia: Hb-Bristol (β57 (E11) Val→Asp). Br. J. Haematol. 1970; 18: 435–446
   PubMed Web of Science ®Google Scholar
• Hyde R. D., Hall M. D., Wiltshire B. G., Lehmann H. Haemoglobin Southampton, β106 (G8) Leu-tPro: an unstable variant producing severe haemolysis. Lancet 1972; 2: 1170–1172
   PubMed Web of Science ®Google Scholar
• Gordon-Smith E. C., Dacie J. V., Blecher T. E., French E. A., Wiltshire B. C., Lehmann H. Haemoglobin Nottingham, βFG5 (98) Val→Gly: a new unstable haemoglobin producing severe haemolysis. Proc. Roy. Soc. Med. 1973; 66: 507–508
   PubMedGoogle Scholar
• Rosa J., Labie D., Wajcman H., Boigne J. M., Cabannes R., Bierme R., Ruffie J. Haemoglobin I Toulouse: β66 (E10) Lys→Glu: a new abnormal haemoglobin with a mutation localized on the E10 porphyrin surrounding zone. Nature 1969; 223: 190–191
   PubMed Web of Science ®Google Scholar
• Cohen Solal M., Thillet J., Gaillardon J., Rosa J. Functional properties of hemoglobin Saint Etienne: a variant carrying heme only on a chains. Rev. Eur. Études Clin. Biol. 1972; 17: 988–993
   PubMedGoogle Scholar
• Cohen-Solal M., Seligmann M., Thillet J., Rosa J. Haemoglobin Saint Louis β28 (B10) leucine→glutamine: a new unstable haemoglobin only present in a ferri form. FEBS Lett. 1973; 33: 37–41
   PubMed Web of Science ®Google Scholar
• Cohen Solal M., Labie D. A new case of hemoglobin Genova α2β228 (B10) Leu→Pro: further studies on the mechanism of instability and defective synthesis. Biochim. Biophys. Acta 1973; 295: 67–76
   PubMedGoogle Scholar
• Wajcman H., Krishnamoorthy R., Gacon G., Elion J., Allard C., Labie D. A new hemoglobin variant involving the distal histidine: Hb Bicětre (β63 (E7) His→Pro). J. Plolec. Med. 1976; 1: 187–197
   Google Scholar
• Wajcman H., Pagnier J., Labie D., Boivin P. Hémoglobine Köln; physiopathologie d'une hémoglobine perdant spontanément son hème. Nouv. Rev. Fr. Hématol. 1971; 11: 317–330
   PubMedGoogle Scholar
• Garel M. C., Blouquit Y., Rosa J. Hemoglobin Castilla β 32 (B 14) Leu→Arg: a new unstable variant producing severe hemolytic disease. FEBS Lett. 1975; 58: 145–148
   Web of Science ®Google Scholar
• Outeirino J., Casey R., White J. M., Lehmann H. Haemoglobin Madrid β115 (G17) alanine→proline: an un-stable variant associated with haemolytic anaemia. Acta Haematol. 1974; 52: 53–60
   PubMed Web of Science ®Google Scholar
• Jones R. T., Brimhall B., Huisman T. H. J., Kleihauer E., Betke K. Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue. Science 1966; 154: 1024–1027
   PubMed Web of Science ®Google Scholar
• Hollsn S. R., Szelényi J. G., Miltényi M., Charlesworth D., Lorkin P. A., Lehmann H. Unstable haemoglobin disease caused by Hb Santa Ana-β88 (F4). Leu→Pro. Haematologia 1970; 4: 141–155
   PubMedGoogle Scholar
• Aksoy M., Erdem S., Efremov G. D., Wilson J. B., Huisman T. H. J., Schroeder W. A., Shelton J. R., Shelton J. R., Ulitin O. N., Müftüaˇglu, Hemoglobin A. Istanbul: substitution of glutamine for histidine in a proximal histidine (FS(92)β). J. Clin. Invest. 1972; 51: 2380–2387
   PubMed Web of Science ®Google Scholar
• Idelson L. I., Didkowsky N. A., Casey R., Lorkin P. A., Lehmann H. New unstable haemoglobin (Hb Moscva, β24 (B4) Gly→Asp) found in the USSR. Nature 1974; 249: 768–770
   PubMed Web of Science ®Google Scholar
• Idelson L. I., Didkovsky N. A., Filippova A. V., Casey R., Kynoch P. A. M., Leyman H. Haemoglobin Volga, β27, (B9) Ala→Asp, a new highly unstable haemoglobin with a suppressed charge. FEBS Lett. 1975; 58: 122–125
   PubMed Web of Science ®Google Scholar
• Carrell R. W., Owen M. C. A new approach to haemoglobin variant identification: haemoglobin Christchurch β71 (E15) phenylalanine→serine. Biochim. Biophys. Acta 1971; 236: 507–511
   PubMed Web of Science ®Google Scholar
• Brennan S. O., Ekert H., Tauro G., Carrell R. W. Haemoglobin Volga: a variant producing congenital haemolytic anaemia. N. Z. Med. J. 1976; 83: 162
   Google Scholar
• Shibata S., Iuchi I., Miyaji T., Ueda S., Takeda I. Hemolytic disease associated with the production of abnormal hemoglobin and intraerythrocytic Heinz bodies. Acta Haematol. Jpn. 1963; 26: 164–173
   PubMedGoogle Scholar
• Ohba Y., Miyaji T., Matsuoka M., Sugiyama K., Suzuki T., Sugiura T. Hemoglobin Mizuho or beta 68 (E 12) leucine→proline, an unstable variant associated with severe hemolytic anemia. Hemoglobin 1977; 1: 467–477
   PubMed Web of Science ®Google Scholar
• Ohba Y., Miyaji T., Matsuoka M., Yamaguchi K., Yonemitsu H., Ishii T., Shibata S. Hemoglobin Chiba: Hb Hammersmith in a Japanese girl. Acta Haematol. Jpn. 1975; 38: 53–58
   PubMedGoogle Scholar
• Pisciotta A. V., Ebbe S. N., Hinz J. E. Clinical and laboratory features of two variants of methemoglobin M disease. J. Lab. Clin. Med. 1959; 54: 73–87
   PubMedGoogle Scholar
• Heller P., Weinstein H. G., Yakulis V. J., Rosenthal, Hemoglobin I. M., Kankakee M. a new variant of hemoglobin M. Blood 1962; 20: 287–301
   PubMed Web of Science ®Google Scholar
• Stamatoyannopoulos G., Nute P. E., Giblett E., Detter J., Chard R. Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. J. Med. Genet. 1976; 13: 142–147
   PubMedGoogle Scholar
• Josephson A. M., Weinstein H. G., Yakulis V. J., Singer L., Heller P. A new variant of hemoglobin M disease: Hemoglobin M Chicago. J. Lab. Clin. Med. 1962; 59: 918–925
   PubMed Web of Science ®Google Scholar
• Farmer M. B., Lehmann H., Raine D. N. Two unrelated patients with congenital cyanosis due to haemoglobinopathy M. Lancet 1964; 2: 786–789
   PubMed Web of Science ®Google Scholar
• Krishnamoorthy R., Wajcman H., Labie D., Backef C. H., Tron P. A case of hemoglobin M Boston. Mew data about valency hybrids brought by isoelectrofocusing study. Biomedicine 1976; 25: 151–154
   PubMedGoogle Scholar
• Kissin C., Collombel C., Raltassat P., Freycon F., Cotte J. Un cas de méthémoglobinose M. Nouv. Rev. Fr. Hématol. 1971; 11: 17–23
   PubMedGoogle Scholar
• Sahawi E., Hunger H., Betke K. Sporadisches Auftreten von Hb M (Boston-typ?) in einer mitteldeutschen Familie. Schweiz. Med. Wschr. 1962; 92: 1090–1094
   PubMedGoogle Scholar
• Stavem P., Strömme J., Lorkin P. A., Lehmann H. Haemoglobin M Saskatoon with slight constant haemolysis, markedly increased by sulphonamides. Scand. J. Haematol., 9: 566–571
   PubMedGoogle Scholar
• Becroft D. M. O., Douglas R., Carrell R. W., Lehmann H. Haemoglobin M Hyde Park: a hereditary methaemoglobinaemia in a Caucasian child. N. Z. Med. J., 68: 72–76
   PubMedGoogle Scholar
• Kimura N., Nishimoto S., Nawata Y., Mori F., Kodama S., Nakakura S. Hemoglobin M disease: a case report. Jpn. Heart J., 1: 446–465
   Google Scholar
• Hayashi A., Yamamura Y. Hemoglobin MOsaka, a new variant of hemoglobin M. Jpn. J. Hum. Genet. 1964; 9: 87–94
   Google Scholar