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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 1
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Short Communication

Rare Hemoglobin Variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan Families

P. Shiromi PereraFaculty of Medicine, University of Kelaniya, Kelaniya, Sri Lanka, Correspondence[email protected]
,
Ishari SilvaHemal’s Thalassemia Care Unit, North Colombo Teaching Hospital, Ragama, Sri Lanka,
,
Menaka HapugodaFaculty of Medicine, University of Kelaniya, Kelaniya, Sri Lanka,
,
Merita N. WickramarathneFaculty of Applied Sciences, Sabaragamuwa University of Sri Lanka, Belihulova, Sri Lanka,
,
Indira WijesiriwardenaFaculty of Medicine, University of Sri Jayewardhanepura, Nugegoda, Sri Lanka,
,
Dimitar G. EfremovMolecular Hematology Unit, International Centre for Genetic Engineering and Biotechnology, Rome, Italy,
,
Christopher A. FisherMedical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, Oxfordshire, UK
,
David J. WeatherallMedical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, Oxfordshire, UK
&
Anuja PremawardhenaFaculty of Medicine, University of Kelaniya, Kelaniya, Sri Lanka, ;Hemal’s Thalassemia Care Unit, North Colombo Teaching Hospital, Ragama, Sri Lanka,
show all
Pages 62-65 | Received 02 Jul 2014, Accepted 22 Aug 2014, Published online: 09 Jan 2015

References

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  • Fisher CA, Premawardhane A, de Silva S, et al. The molecular basis for the thalassaemias in Sri Lanka. Br J Haematol. 2003;121(4):662–671
  • Romero C, Fuertes F, Quintana A, et al. Hb G-Szuhu or α2β280(EF4)Asn → Lys, in combination with β0 thalassemia in a Spanish family. Hemoglobin. 1985;9(5):535–539
  • Schneider RG, Hagard ME, McNutt CW, et al. Hemoglobin G Coushatta: A new variant in an American Indian family. Science. 1964;14(3):697–698
  • Blackwell RQ, Liu C-S, Yang H-J, et al. Hemoglobin variant common to Chinese and North American Indians . Science. 1968;161(3839):381–382
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  • Blackwell RQ, Huang JT-H, Ro I-H. Hemoglobin variant in Koreans: Hemoglobin G Taegu. Science. 1967;158(3804):1056–1057
  • Ohba Y, Miyaji T, Hirosaki T, et al. Occurrence of Hemoglobin G Coushatta in Japan. Hemoglobin. 1978;2(5):437–441
  • Dincol G, Dincol K, Erdem S. Hb G-Coushatta or α2β222(B4)Glu → Ala in a Turkish male. Hemoglobin. 1989;13(1):75–77
  • Ohba Y, Miyaji T, Matsuoka M, et al. Hemoglobin Mizuho or β68(E12)leucine → proline, a new unstable variant associated with severe hemolytic anemia. Hemoglobin. 1977;1(5):467–477
  • Labotka RJ, Vida LN, Honig GR. Hb Mizuho [β68(E12)Leu → Pro]. Second occurrence identified in a Caucasian child with hemolytic anemia and dense erythrocyte inclusions. Hemoglobin. 1990;14(2):129–136
  • Keeling MM, Bertolone SJ, Baysal E, et al. Hb Mizuho or α2β268(E12)Leu → Pro in a Caucasian boy with high levels of Hb F; identification by sequencing of amplified DNA. Hemoglobin. 1991;15(6):477–485
  • Harthoorn-Lasthuizen EJ, Nabben FA, Kazanetz EG, et al. Hb Mizuho or α2β268(E12)Leu → Pro in a young Dutch boy. Hemoglobin. 1995;19(3):203–206

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