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Hemoglobin
international journal for hemoglobin research
Volume 25, 2001 - Issue 1
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Original

Hb SITIA [β128(H6)Ala→Val]: AN UNSTABLE VARIANT WITH A SUBSTITUTION IN THE α1β1 INTERFACE

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Pages 45-56 | Received 13 Jun 2000, Accepted 08 Sep 2000, Published online: 07 Jul 2009

REFERENCES

  • Perutz M. F. Molecular anatomy, physiology, and pathology of hemoglobin. The Molecular Basis of Blood Disorders, G. Stamatoyannopoulos, A. W. Nienhuis, P. Leder, P. Majerus. W.B. Saunders Company, TorontoCanada 1987; 127–162
  • Sack J. S., Andrews L. C., Magnus K. A., Hanson J. C., Rubin J., Love W. E. Location of amino residues in human deoxyhemoglobin. Hemoglobin 1978; 2(2)153–169
  • Dickerson R. E., Geis I. Hemoglobin: Structure, Function, Evolution and Pathology. The Benjamin/CummingsPublishing Company, Inc., Menlo Park, CAUSA 1983
  • Papassotiriou I., Traeger-Synodinos J., Promé D., Kister J., Stamou E., Liakopoulou T., Stamoulakatou A., Kanavakis E., Wajcman H. Association of unstable hemoglobin variants and heterozygousβ-thalassemia: example of a new variant Hb Acharnes or [β53(D4)Ala → Thr]. Am. J. Hematol. 1999; 62: 186–192
  • Papassotiriou I., Ducrocq R., Préhu C., Bardakdjian-Michau J., Wajcman H. Gamma chain heterogeneity determination of Hb F compositionby perfusion chromatography. Hemoglobin 1998; 22(5&6)469–481
  • Huisman T. H.J. Introduction and review of standard methodology for the detection of hemoglobin abnormalities. The Hemoglobinopathies, T. H.J. Huisman. Churchill Livingstone, EdinburghScotland 1986; 15: 1–31, Methods in Hematology
  • Kister J., Poyart C., Edeistein S. J. An expanded two-state allosteric model for interaction of humanHemoglobin A with non saturating concentrations of 2,3-diphosphoglycerate. J. Biol. Chem. 1987; 262: 12085–12091
  • Ericson A., de Verdier C. A modified method for the determination of 2,3-DPG in erythrocytes. Scand. J. Clin. Lab. Invest. 1972; 29: 85–90
  • Marden M., Kister J., Bohn B., Poyart C. T-state hemoglobin with four ligands bound. Biochemistry 1988; 27: 1659–1664
  • Traeger-Synodinos J., Kanavakis E., Vrettou C., Maragoudaki E., Michael T., Metaxotou-Mavrommati A., Kattamis C. The triplicated α-globin gene locus in β-thalassaemiaheterozygotes: clinical, haematological, biosynthetic and molecular studies. Br. J. Haematol. 1996; 95: 467–471
  • Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from humannucleated cells. Nucleic Acids Res. 1988; 16: 1215
  • Kanavakis E., Traeger-Synodinos J., Vrettou C., Maragoudaki E., Tzetis M., Kattamis C. Prenatal diagnosis of the thalassemia syndromes by rapid DNAanalytical methods. Mol. Hum. Reprod. 1997; 3: 523–558
  • Kanavakis E., Tzotzos S., Liapaki A., Metaxotou-Mavrommati A., Kattamis C. Frequency of α-thalassemia in Greece. Am. J. Hematol. 1986; 22: 225–232
  • Traeger-Synodinos J., Kanavakis E., Tzetis M., Kattamis A., Kattamis C. Characterization of nondeletion α-thalassemia mutationsin Greek population. Am. J. Hematol. 1993; 44: 162–167
  • Wajcman H., Riou J., Promé D., Kister J., Galactéros F. Hb Brie Comte Robert [β36(C2)Pro → Ala]: a new hemoglobinvariant with high oxygen affinity and marked hydrophobic properties. Hemoglobin 1999; 23(3)281–286
  • Gibb I., Parnham A., Fonfrede M., Lecock F. Multicenter evaluation of Tosoh glycohemoglobin analyzer. Clin. Chem. 1999; 45: 1833–1841
  • Wajcman H., Baudin V., Kister J., Feo C., Gombaud-Saintonge G., Bohn B., Marden M., Pagnier J., Poyart C., Dode C., Galacteros F., Blouquit Y., Cynober T., Tchernia G. Hb J Guantanamo (β128(H6) Ala → Asp) in associationwith Hb C and α-thalassemia in a family from Benin. Am. J. Hematol. 1988; 28: 170–175
  • Wajcman H., Lahary A., Promé D., Kister J., Riou J., Godart C., Préhu C., Traeger-Synodinos J., Papassotiriou I., Galactéros F. Hb Mont Saint Aignan [β128(H6)Ala → Pro]: a new unstablevariant leading to chronic microcytic anemia. Hemoglobin 2000; 25(1)57–65
  • Ho P., Wickramasinghe S., Rees D., Lee M., Eden A., Thein S. Erythroblastic inclusions in dominantly inherited β thalassemias. Blood 1997; 89: 322–328

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