Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: Two New Abnormalities of the α2-Globin Gene

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 A1c analysis and subs...

Full description

Saved in:
Bibliographic Details
Published in:Hemoglobin 2010-10, Vol.34 (5), p.439-444
Main Authors: Kaufmann, Judith O., Phylipsen, Marion, Neven, Catherine, Huisman, Wim, Delft, Peter van, Bakker-Verweij, Margreet, Arkesteijn, Sandra G.J., Harteveld, Cornelis L., Giordano, Piero C.
Format: Article
Language:English
Subjects:
Adult
alpha-Globins - genetics
Anemia
Base Sequence
DNA Mutational Analysis
Family Health
Female
Hemoglobin (Hb) variants
Hemoglobins, Abnormal - genetics
Humans
Male
Middle Aged
Mutation, Missense
Pedigree
α Genes
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 A1c 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.
ISSN:0363-0269
1532-432X
DOI:10.3109/03630269.2010.509185