Article

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

The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hemoglobin (impact factor: 1.3). 01/2010; 34(5):439-44. DOI:10.3109/03630269.2010.509185 pp.439-44
Source: PubMed

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.

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Keywords

-5 nt
 
carriers
 
common α2 IVS-I
 
first mutation
 
Hague
 
iron deficiency
 
microcytic hypochromic parameters
 
mutations
 
normal level
 
position 68
 
α2 gene