A mutation of the beta-globin gene initiation codon, ATG-->AAG, found in a French Caucasian man.
A new mutation of the beta-globin gene initiation codon, ATG-->AAG (Met-->Tyr), is reported in a man originating from the southeast of France. Typical hematological findings of beta-thalassemia (thal) trait were found. We emphasize the importance of characterizing uncommon beta-thal mutations for genetic counseling.
Lacan
Philippe
P
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
Aubry
Martine
M
Couprie
Nicole
N
Francina
Alain
A
D000328:Adult; D018387:Codon, Initiator / Q000235:genetics*; D005602:France; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D044465:White People; D017086:beta-Thalassemia / Q000235:genetics*
D018387:Codon, Initiator; D005914:Globins