2,854
Views
4
CrossRef citations to date
0
Altmetric
HEMOGLOBINOPATHY

Hb Koln [β98(FG5) [GTG → ATG, Val → Met]: The first report from India

, , , , , & show all

References

  • Horst J, Oehme R, Kohne E. Hemoglobin Koln: direct analysis of the gene mutation by synthetic DNA probes. Blood 1986;68:1175–7.
  • Miller DR, Weed RI, Stamatoyannopoulos G, Yoshida A. Hemoglobin Koln disease occurring as a fresh mutation: erythrocyte metabolism and survival. Blood 1971;38:715–29.
  • Kedar PS, Colah RB, Kulkarni S, Ghosh K, Mohanty D. Experience with eosin-5′-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders. Clin Lab Haematol. 2003;25:373–6.
  • Tan A, Quah T, Low P, Chang S. A rapid and reliable 7 deletion multiplex polymerase chain reaction assay for α thalassemia. Blood 2001;98:250–1.
  • Naito Y, Takahashi T, Matsunashi T, Harano K, Harano T. Hb Nishinomiya [Leu-Gly-inserted between codons 69(E13) and 70(E14) of beta]: a novel unstable hemoglobin with reduced oxygen affinity found in a patient with spherocytic hemolysis. Int J Hematol. 2002;76:146–54.
  • Pribilla W. Thalasssaemia-ahnliche Erkrankung mit neuem minor-Hamoglobin (Hb Koln). In: Lehmann H, Betke K (eds.) Haemoglobin-colloquium. Wien, Stuttgart: Thieme; 1962. pp. 73–4.
  • Carrell RW, Lehmann H, Hutchison HS. Hemoglobin Koln (b98 Valine-Methionine). An unstable protein causing inclusion body anemia. Nature 1966;210:915–916
  • Riou J, Godart C, Hurtrel D, Mathis M, Bimet C, Bardakdjian-Michau J, et al. Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants. Clin Chem. 1997;43(1):34–9.
  • Colah RB, Surve R, Sawant P, D'Souza E, Italia K, Phanasgaonkar S, et al. HPLC Studies in Hemoglobinopathies. Indian J Pediatr. 2007;74:657–64.
  • Pedersen PR, McCurdy R, Wrightstone RN, Wilson JB, Smith LL, Huisman THJ. Hemoglobin Koln in a Black: Pre-and post-splenectomy red cell survival (DF 32P and 51Cr) and the pathogenesis of hemoglobin instability. Blood 1973;42:771–81.
  • Hutchison HE, Pinkerton PH, Waters P, Douglas AS, Lehmann H, Beale D. Hereditary Heinz-body anemia, thrombocytopenia, and haemoglobinopathy (Hb Koln) in a Glasgow family. Br Med J. 1964;2:1099–103.
  • Eng LL, Lopez CG, Eapen JS, Eravelly J, Wiltshire BG, Lehmann H. Unstable Haemoglobin Koln disease in members of a Malay family. J Med Genet. 1972;9:340–3.
  • Hallen J, Charlesworth D, Lehmann H. Haemoglobin Koln in a Jewish family. Acta Med Scand. 1972;191:177–80.
  • Ohba Y, Miyaji T, Shibata S. Identical substitution in Hb Ube-I and Hb Koln. Nat. New Biol. 1973;243:205–7.
  • Indrak K, Brabec V, Wilson JB, Webber BB, Huisman THJ. Hb Koln or α2 β2 98 (FG5) Val → Met in a Czechoslovakian family. Hemoglobin 1991;15:133–5.
  • Chang YH, Hur M, Lee DS, Park SS, Kim BK, Park S, et al. The first case of Hb Koln [β98 (FG5) Val → Met] in Korea. Hemoglobin 1999;3:287–9.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.