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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

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Mona Fayez Abdelgawad , 2014Description: 163 P. : charts , facsimiles ; 25cmOther title:
  • فى مرضى انيميا البحر المتوسط المصريين و علاقتها بزيادة نسبة الحديد HFE نسبه حدوث الطفرات الوراثيه فى جين [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: 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
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Thesis Thesis 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
CD - Rom CD - Rom 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

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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