Initiation codon mutation (ATG → ATA) of the β‐globin gene causing β‐thalassemia in a Swedish family
- 1 March 1995
- journal article
- case report
- Published by Wiley in American Journal of Hematology
- Vol. 48 (3), 158-162
- https://doi.org/10.1002/ajh.2830480304
Abstract
An initiation codon mutation ATG → ATA of the β‐globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a β°‐thalassemic phenotype. The affected family members all present hematological findings typical for β‐thalassemic trait, with slight anemia, marked microcytosis, and increased levels of Hb A2. ©1995 Wiley‐Liss, Inc.Keywords
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