De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family.

doi:10.1002/ajh.2830420303

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Article

De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family.

American journal of hematology - 1 Mar 1993

Beris P, Darbellay R, Speiser D, Kirchner V, Miescher P A

Abstract excerpt

Investigation of microcytic anemia with normal ferrous status in two members (father and daughter) of a Swiss family originating from Bern revealed high levels of HbA2 (4%, 7.3%) and HbF (3.2%, 3.1%). Direct sequence analysis of asymmetrically amplified DNA showed the ATG-->ACG mutation in the in...

Topics

Base Sequence
Blood Grouping and Crossmatching
Codon
Female
Globins
Haplotypes
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Switzerland
beta-Thalassemia

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