title: Detection of specific beta-globin mutations in Kurdish Jews with beta-thalassemia.
abstract: Patients with beta-thalassemia, of Kurdish extraction, were screened for the presence of two mutations, in the TATA box and in codon 44, previously discovered in this ethnic isolate. Of the 56 chromosomes analyzed, 13 were found to carry the TATA box mutation and 17 the codon 44 mutation. The result of this work provides a basis for a more efficient prenatal diagnosis program for this community.
authors.affiliation: Department of Hematology, Hadassah University Hospital, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Oppenheim
authors.forename: S
authors.initials: S
authors.lastname: Cohen
authors.forename: A
authors.initials: A
authors.lastname: Goldfarb
authors.forename: J
authors.initials: J
authors.lastname: Katzhendler
authors.forename: J
authors.initials: J
authors.lastname: Deutsch
authors.forename: E A
authors.initials: EA
authors.lastname: Rachmilewitz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005914:Globins / Q000235:genetics*; D006801:Humans; D007557:Israel; D007585:Jews; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins