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 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.
Kaufmann
Judith O
JO
The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. J.O.Kaufmann@lumc.nl
Phylipsen
Marion
M
Neven
Catherine
C
Huisman
Wim
W
van Delft
Peter
P
Bakker-Verweij
Margreet
M
Arkesteijn
Sandra G J
SG
Harteveld
Cornelis L
CL
Giordano
Piero C
PC
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D055542:alpha-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C556237:hemoglobin St. Truiden; C556238:hemoglobin Westeinde