Literature DB >> 20854117

Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.

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 AsnHis substitution at position 68, the other in a LeuGln 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.

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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


  1 in total

1.  An updated review of abnormal hemoglobins in the Turkish population.

Authors:  Nejat Akar
Journal:  Turk J Haematol       Date:  2014-03-05       Impact factor: 1.831

  1 in total

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