A novel frameshift mutation causing beta-thalassemia in a Sikh.
During our survey of beta-thalassemia mutations among residents of the United Arab Emirates, we came across a Sikh family who had two new beta-thalassemia mutations. The father had a frameshift mutation at codons 47/48 (+ATCT), and the mother another frameshift mutation at codons 57/58 (+C). The offspring of this family were two daughters with beta-thalassemia trait and a boy with a compound heterozygosity. The boy, who was transfusion-dependent from the age of 7 months, had a successful bone marrow transplant from his eldest sister at the age of 13 months.
el-Kalla
S
S
Pediatric and Genetic Department, Al Wasl Maternity and Pediatric Hospital, Dubai, United Arab Emirates.
Mathews
A R
AR
D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D014479:United Arab Emirates; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA