Article
New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG].
Hemoglobin - 1 Jan 2010
Phylipsen Marion, Harteveld Cornelis L, de Metz Menno, Gallivan Monica V E, Arkesteijn Sandra G J, Luo Hong-Yuan, Chui David H K, Giordano Piero C
Abstract excerpt
We report a novel thalassemia determinant found in a Nigerian woman living in the Netherlands, resulting from a 2 bp insertion at codons 9/10 of the β-globin gene (HBBc.28_29insTA p.Ser10LeufsX11). The novel defect causes a frameshift with a consequent premature TGA stop codon, located at 11 positions downstream from the mutated codon. The phenotype was typical of a β-thalassemia (β-thal), trait with high RBC...
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