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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 2
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Short Communication

The First Case of Hb Groene Hart [α119(H2)Pro→Ser, CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant

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Pages 179-182 | Received 11 Oct 2006, Accepted 08 Nov 2006, Published online: 07 Jul 2009

REFERENCES

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  • Harteveld CL, Van Delft P, Plug R, Versteegh FG, Hagen B, van Rooijen I, Kok PJMJ, Wajcman H, Kister J, Giordano PC. Hb Groene Hart: a new Pro→Ser amino acid substitution at position 119 of the α1-globin chain is associated with a mild α-thalassemia phenotype. Hemoglobin 2002; 26(3)255–260
  • Siala H, Ouali F, Messaoud T, Sfar R, Fattoum S. First description in Tunisia of a point mutation at codon 119 (CCT→TCT) in the α1-globin gene: Hb Groene Hart in association with the −α3.7 deletion. Hemoglobin 2005; 29(4)263–268
  • Vasseur-Godbillon C, Marden MC, Giordano PC, Wajcman H, Baudin-Creuza V. Impaired binding of AHSP to mutated α chain variants: Hb Groene Hart illustrates a mechanism leading to unstable variants with α-thalassemic like syndromes. Blood Cells Mol Dis 2006, [Epub ahead of print]
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  • Turbpaiboon C, Limjindaporn T, Wongwiwat W, U-Pratya Y, Siritanaratkul N, Yenchitsomanus PT, Jitrapakdee S, Wilairat P. Impaired interaction of α-haemoglobin-stabilising protein with α-globin termination mutant in a yeast two-hybrid system. Br J Haematol 2006; 132(3)370–373

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