سال انتشار: ۱۳۸۴

محل انتشار: چهارمین همایش ملی بیوتکنولوژی ایران

تعداد صفحات: ۳

نویسنده(ها):

S.Mohammad Eram – Medical Genetic Lab. Of Dr Zeinali
Babak Azimifar – Medical Genetic Lab. Of Dr Zeinali
Hassan Abolghasemi – Molecular Biology Research Center, Baqiatallah University of medical Sciences tehran
Panty Foulady – Medical Genetic Lab. Of Dr Zeinali

چکیده:

β-thalassemia with normal HbA2 and decreased MCV and MCH levels is a relatively rare form of β-thalassemia trait. Here, we describe a family with normal HbA2 and decreased levels of MCV and MCH. ARMS-PCR revealed IVSII-1 mutation in the β-globin gene in proband and her father. Direct sequencing of the delta-globin gene revealed a previously reported mutation called Troodos in the proband and her father (in cis with β-globin gene mutation).
This is the first report of co-incidence of HbA2 Troodos and βIVSII-1 mutation. Coincidence of β and δ-globin gene mutation can cause problems in genetic counseling and prenatal diagnosis, due to masking the effect of β-globin gene mutation.