May 12,2018 Scientific research & Postgraduate Studies, Pharmacy

A 290-Base-Pair Deletion in the Beta-Globin Gene Causing β-Thalassaemia in Syria

Author

Al-Quobaili F.; Kulozik A.E.; Shwaiki E.M.Z.; Jouma M.D.; Ioannou P.

Published in

Medical Principles and Practice, Vol. 6, No. 3, July 1997

Abstract

A 290-bp deletion in the 5’ region of the β-globin gene is described for the first time in a Syrian family leading to β-thalassaemia major in homozygous form.

Keywords: β-Thalassaemia - Deletion - Mutation - Polymerase chain reaction - DNA sequencing.

Link to read full paper

https://www.karger.com/Article/Abstract/157546