A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote.
We have detected a novel alpha-thalassemia-2 with a large (18+ kb) deletion involving the alpha 1- and theta 1-globin genes and the 3' hypervariable region sequence. Unexpectedly, the heterozygote had a mild anemia with a marked microcytosis and hypochromia, and an in vitro alpha/beta chain synthesis ratio of 0.62-0.66. It is suggested that the deletion includes a sequence that is involved in the in cis regulation of the alpha 2-globin gene.
Indrak
K
K
Department of Clinical Hematology, Faculty Hospital, Olomouc.
Gu
Y C
YC
Novotny
J
J
Huisman
T H
TH
D000328:Adult; D004913:Erythrocytes, Abnormal / Q000378:metabolism*; D017353:Gene Deletion; D005914:Globins / Q000235:genetics; D006454:Hemoglobins / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008297:Male; D017085:alpha-Thalassemia / Q000097:blood* / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins