Premium
A new α‐thalassemia‐2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote
Author(s) -
Indrak K.,
Gu Y.C.,
Novotny J.,
Huisman T. H. J.
Publication year - 1993
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830430214
Subject(s) - microcytosis , heterozygote advantage , thalassemia , genetics , compound heterozygosity , hemoglobinopathy , biology , globin , gene , anemia , hemolytic anemia , medicine , allele , immunology , iron deficiency
We have detected a novel α‐thalassemia‐2 with a large (18 + kb) deletion involving the α 1 ‐and θ‐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 α/β 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 α 2 ‐globin gene.