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Haematological study of beta thalassemia in holy Kerbala Governorate
دراسة دموية لمرض فقر الدم البحري بيتا في محافظة كربلاء المقدسة

Authors: اسلام احمد عبد الصاحب المسعودي --- زهير محمد علي جدوع
Journal: journal of kerbala university مجلة جامعة كربلاء ISSN: 18130410 Year: 2015 Volume: 13 Issue: 1 Pages: 195-202
Publisher: Kerbala University جامعة كربلاء

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Abstract

The importance of the present study was in the haematological and biochemical evaluation of haemoglobin in beta - thalassemia patients in holy Kerbala Governorate , A total of 36 blood samples were collected from beta - thalassemia major patients and 20 samples from beta - thalassemia intermedia patients from Al-Hussein medical city in Kerbala and compared with 20 samples from apparently healthy control group. The blood groups for all studied samples were determined , and the correlation between the blood groups and the phenotypic pattern of the disease was studied . The results revealed that there was significant statistical correlation between beta - thalassemia major and blood groups B&O; and between beta- thalassemia intermedia & blood group A. The complete blood picture for all samples were determined including (RBC count ,WBC count ,blood platelet count, hematocrit (HCT), Mean cell volume(MCV) , Mean cell hemoglobin(MCH) and Mean cell hemoglobin concentration (MCHC) . The results revealed significant statistical differences between patients groups and apparently healthy individuals for all studied parameters except WBC counts. The concentrations of Hb were determined,and the quantative and qualitative analyses of Hb using Hb electrophoresis were adopted to determine the Hb types (HbA, HbA2 and HbF) and their percentages,the results showed significant differences between studied groups for these three types of haemoglobin.In thalassemia major HbF (76.06% ± 25.70),HbA (23.55%±19.83) and HbA2 (3.90% ± 2.98) Whereas the results in thalassemia intermedia showed the percentage of HbF (7.16% ± 1.52), HbA(56.58% ± 17.9) and HbA2(7.45% ± 5.48)

تكمن اهمية الدراسة الحالية في تقييم النواحي الدموية المتمثلة بالتقدير الكمي والنوعي لخضاب الدم في مرضى فقر الدم البحري بيتا في محافظة كربلاء المقدسة. جمعت عينات الدم من (36) مريضاʺ مصاباʺ بالإصابة الكبرى و(20) مصاباʺ بالإصابة الوسطى لفقر الدم البحري بيتا من مركز فقر الدم البحري - مدينة الحسين (ع) الطبية في محافظة كربلاء المقدسة و(20) شخصاʺ من الاصحاء ظاهرياʺ , تم تحديد فصائل الدم للعينات المشمولة بالدراسة وتم دراسة العلاقة بين فصائل الدم والنمط المظهري للمرض ووجد ان هناك علاقة دالة احصائيا بين الاصابة الكبرى وفصائل الدم (B,O) وكذلك بين الاصابة الوسطى وفصيلة الدم (A). درس تحليل مكونات الدم الشامل (Complete blood picture) للعينات المدروسة حيث شمل التحليل (تعداد خلايا الدم الحمراء ,تعداد خلايا الدم البيض , تعداد الصفائح الدموية , Hb, HCT, MCV, MCH, MCHC) حيث اظهرت النتائج فروق احصائية معنوية بين مجاميع المرضى مقارنة بالأصحاء مظهريا لجميع المعايير المدروسة ماعدا تعداد خلايا الدم البيض. تم حساب تراكيز خضاب الدم(Hb) , التحليل الكمي والنوعي لخضاب الدم باستخدام الترحيل الكهربائي لخضاب الدم لتحديد انواعه (HbF,HbA2 , HbA ) والنسب المئوية لها وتم الكشف عن فروق معنوية بين المجاميع المدروسة في الانواع الثلاثة المذكورة أنفا لخضاب الدم وكانت :- في الاصابة الكبرى HbF (76.06% ± 25.70) وHbA (19.83% ± 23.55) و HbA2 (3.90% ± 2.98) بينما اظهرت النتائج في الاصابة الوسطى ان نسبة HbF (7.16% ± 1.52) وHbA ((56.58% ± 17.9 وHbA2 ((7.45% ± 5.48.

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Article
Molecular characterization of Beta- thalassemia Mutations in Holy Karbala
الكشف الجزيئي عن الطفرات المسببة لفقر الدم البحري (بيتا) في كربلاء المقدسة

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Abstract

AbstractBeta- thalassemia is autosomal recessive disease that spread inhigh percentages around the world. the importance of the presentstudy was in evaluating the disease in holy Kerbala، Iraq using moleculartechniques.A total of 36 of blood samples were collected from beta- thalassemiamajor patients، 20 samples intermedia thalassemic patients fromthalassemia center- AL-Hussain medical city in holy Kerbalagovernorate، and 20 samples from apparently healthy individuals as acontrol group.The DNA molecules were extracted from all samples for molecularcharacterization of four β- thalassemia mutations are [IVS1-110(G>C)،CD8/9(+G)،-87(C>G)،CD41/42(-TCTT)] using PCR basedtechnique called Amplification Refractory Mutation System (ARMS).The results revealed that IVS1-110 is the common mutation70%) in the studied samples، the CD8/9(+G) mutation was ) 14diagnosed for first time in holy Kerbala 2(10%)، the -87(C>G) wasdiagnosed for the first time in Iraq in percentage 4(20%) and finally theCD 41/42 was not diagnosed in the studied samples.Geographical distribution of diagnosed mutations were studied thedistribution of mutations within Kerbala regions، the results showedthat the city center was more affected with diagnosed mutations.Finally، results also revealed that heterozygotes were the moregenotypic patterns 20(74.07%) of mutations in comparison withhomozygotes with were 5(18.52%)، and the compound cases were2(7.41%) of studied mutations.Key words: Thalassemia، ARMS-PCR، Mutations، IVS1-110(G>C)،CD8/9(+G)،-87(C>G)،CD41/42(-TCTT)، Kerbala.

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