A NEW ALPHA-THALASSEMIA-2 DELETION RESULTING IN MICROCYTOSIS AND HYPOCHROMIA AND INVITRO CHAIN IMBALANCE IN THE HETEROZYGOTE

Authors
INDRAK K GU YC NOVOTNY J HUISMAN THJ
Citation
K. Indrak et al., A NEW ALPHA-THALASSEMIA-2 DELETION RESULTING IN MICROCYTOSIS AND HYPOCHROMIA AND INVITRO CHAIN IMBALANCE IN THE HETEROZYGOTE, American journal of hematology, 43(2), 1993, pp. 144-145
Citations number
5
Categorie Soggetti
Hematology
Journal title
American journal of hematology → ACNP
ISSN journal
03618609
Volume
43
Issue
2
Year of publication
1993
Pages
144 - 145
Database
ISI
SICI code
0361-8609(1993)43:2<144:ANADRI>2.0.ZU;2-F
Abstract
We have detected a novel alpha-thalassemia-2 with a large (18+ kb) del etion involving the alpha1- and theta1-globin genes and the 3' hyperva riable region sequence. Unexpectedly, the heterozygote had a mild anem ia with a marked microcytosis and hypochromia, and an in vitro alpha/b eta chain synthesis ratio of 0.62-0.66. It is suggested that the delet ion includes a sequence that is involved in the in cis regulation of t he alpha2-globin gene.