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Effect of HFE gene (hemochromatosis in iron) mutation on iron overload in thalassemic patients / Mary Maher Assaad ; Supervised Manal Michel Wilson , Hanan Alhusseiny Mohamed , Fadwa Said Abdelazim

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Mary Maher Assaad , 2014Description: 127 P. : charts , facsimiles ; 25cmOther title:
  • تاثير تحورجينات تنظيم امتصاص الحديد فى زيادة الحديد فى مرضى انيميا البحرالأبيض المتوسط [Added title page title]
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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: Ý- thalassemia is a common genetic disorder affecting Ý globin gene and it is characterized by ineffective erythropoeisis and iron overload as a secondary complication. HFE gene is considered to be a major candidate for the gene bearing the primary defect responsible for hemochromatosis and iron overload. The aim of the study was to evaluate the influence of H63D and C282Y mutations in HFE gene on serum ferritin and iron levels in different genotypes of thalassemic patients and carriers. H63D and C282Y mutations of HFE gene were assessed in 75 Ý- thalassemia patients and in 25 Ý- thalassemia carriers by polymerase chain reaction - restriction fragment length polymorphism. In addition determination of the underlying genetic mutation in Ý- globin chain was done through reverse hybridization technique
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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2014.Ma.E (Browse shelf(Opens below)) Not for loan 01010110064258000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2014.Ma.E (Browse shelf(Opens below)) 64258.CD Not for loan 01020110064258000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Ý- thalassemia is a common genetic disorder affecting Ý globin gene and it is characterized by ineffective erythropoeisis and iron overload as a secondary complication. HFE gene is considered to be a major candidate for the gene bearing the primary defect responsible for hemochromatosis and iron overload. The aim of the study was to evaluate the influence of H63D and C282Y mutations in HFE gene on serum ferritin and iron levels in different genotypes of thalassemic patients and carriers. H63D and C282Y mutations of HFE gene were assessed in 75 Ý- thalassemia patients and in 25 Ý- thalassemia carriers by polymerase chain reaction - restriction fragment length polymorphism. In addition determination of the underlying genetic mutation in Ý- globin chain was done through reverse hybridization technique

Issued also as CD

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