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Initiation codon mutation (ATG → ATA) of the β-globin gene causing β-thalassemia in a Swedish family

✍ Scribed by Dr. Britta Landin; Olle Rudolphi; BÖRje Ek

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
436 KB
Volume
48
Category
Article
ISSN
0361-8609

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✦ Synopsis

An initiation codon mutation ATG-ATA of the p-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 po-thalassemic phenotype. The affected family members all present hematological findings typical for p-thalassemic trait, with slight anemia, marked microcytosis, and increased levels of Hb A,.

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