A novel frameshift mutation causing beta-thalassemia in a Sikh.

S el-Kalla; A R Mathews

doi:10.3109/03630269509036938

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PubMed · 7558874

A novel frameshift mutation causing beta-thalassemia in a Sikh.

S el-Kalla·A R Mathews

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Abstract

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.

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Base Sequence Child, Preschool DNA Ethnicity Female Frameshift Mutation Globins Hemoglobins, Abnormal Humans Male Molecular Sequence Data United Arab Emirates beta-Thalassemia Comparative Study Journal Article

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S el-Kalla, A R Mathews. A novel frameshift mutation causing beta-thalassemia in a Sikh.. https://doi.org/10.3109/03630269509036938

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