Frequency of hereditary hemochromatosis (HFE) gene mutations in Egyptian beta thalassemia patients and its relation to iron overload / Mona Fayez Abdelgawad ; Supervised Azza Ahmed Aboulenein , Khalda Sayed Mohamed , Nermin Ahmed Eldosoky
Material type:
- فى مرضى انيميا البحر المتوسط المصريين و علاقتها بزيادة نسبة الحديد HFE نسبه حدوث الطفرات الوراثيه فى جين [Added title page title]
- Issued also as CD
Item type | Current library | Home library | Call number | Copy number | Status | Barcode | |
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قاعة الرسائل الجامعية - الدور الاول | المكتبة المركزبة الجديدة - جامعة القاهرة | Cai01.11.07.Ph.D.2014.Mo.F (Browse shelf(Opens below)) | Not for loan | 01010110063920000 | ||
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مخـــزن الرســائل الجـــامعية - البدروم | المكتبة المركزبة الجديدة - جامعة القاهرة | Cai01.11.07.Ph.D.2014.Mo.F (Browse shelf(Opens below)) | 63920.CD | Not for loan | 01020110063920000 |
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Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
This study aimed to detect the most common HFE mutations (C282Y, H63D and S56C) in Egyptian beta - thalassemia patients and to study its relation to iron status in thalassemia patients. The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as control group. Serum ferritin level was measured by ELISA for all beta thalassemia patients and control group. Serum iron and TIBC were measured and transferrin saturation was calculated for all patients. Detection of the three HFE gene mutations (C282Y, H63D and S65C) by RFLP analysis using PCR amplification and restriction enzyme digestion of DNA amplified products of thalassemic patients and control group using Sna B1,Bcl1 and hinf1 respectiveley
Issued also as CD
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