A new α‐thalassemia‐2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote | Zendy

Indrak K. | Zendy; Gu Y.C. | Zendy; Novotny J. | Zendy; Huisman T. H. J. | Zendy

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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.

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