Detection of Specific Bglobin Mutations in Kurdish Jews with β-Thalassmia

Ariella Oppenheim Department of Hematology, Hadassah University Hospital, Jerusalem, Israel, 91120

Sason Cohen Department of Pharmaceutical Chemistry, the Hebrew University - Hadassah Medical School, Jerusalem, Israel, 91010

Ada Goldfarb Department of Hematology, Hadassah University Hospital, Jerusalem, Israel, 91120

Joshua Katzhendler Department of Pharmaceutical Chemistry, the Hebrew University - Hadassah Medical School, Jerusalem, Israel, 91010

Joseph Deutsch Department of Pharmaceutical Chemistry, the Hebrew University - Hadassah Medical School, Jerusalem, Israel, 91010

Eliezer A. Rachmilewitz Department of Hematology, Hadassah University Hospital, Jerusalem, Israel, 91120

Abstract

Patients with β-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.

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Detection of Specific Bglobin Mutations in Kurdish Jews with β-Thalassmia

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Detection of Specific Bglobin Mutations in Kurdish Jews with β-Thalassmia

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