| Literature DB >> 20854117 |
Judith O Kaufmann1, Marion Phylipsen, Catherine Neven, Wim Huisman, Peter van Delft, Margreet Bakker-Verweij, Sandra G J Arkesteijn, Cornelis L Harteveld, Piero C Giordano.
Abstract
We report two new abnormal hemoglobins (Hbs) caused by mutations on the α2 gene. One resulted into an Asn→His substitution at position 68, the other in a Leu→Gln substitution at position 125. The first mutation was observed in a 61-year-old North European Belgian male during Hb A(1c) analysis and subsequently in other members of his family. The variant was expressed at a normal level and caused no hematological abnormalities in the carriers. The second was found in a 27-year-old Turkish male living in The Hague, The Netherlands, who presented with microcytic hypochromic parameters without iron deficiency and was also carrier of the common α2 IVS-I (-5 nt) deletion.Entities:
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Year: 2010 PMID: 20854117 DOI: 10.3109/03630269.2010.509185
Source DB: PubMed Journal: Hemoglobin ISSN: 0363-0269 Impact factor: 0.849