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Research in Molecular Medicine، جلد ۵، شماره ۲، صفحات ۳۴-۳۶
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Identification of a Neonate with Thalassemia Intermedia Despite Premarital Screening Program in Mazandaran Province (Co-inheritance of Hb Knossos and IVS II-1 G> A Mutations) |
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| چکیده انگلیسی مقاله |
Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin electrophoresis. Silent mutations on β-globin gene have borderline or normal hematological indices that cannot be detected in premarital screening. Material and Methods: A 4 years old boy affected with β-thalassemia was referred to the lab for molecular analysis. During the screening program for β-thalassemia, his father and mother were diagnosed as α and β-thalassemia carrier respectively. Results: The results of molecular analysis showed that in addition to the α-globin single gene deletion (α3.7) the father have also carried a silent mutation on his β-globin gene named HBB c.82G>T or Hb Knossos that was missed in screening program. Conclusion: The presented case shows that using CBC and hemoglobin electrophoresis in premarital screening program for detecting β-thalassemia carriers is not a valid approach and individuals who are carriers of silent β-globin gene mutations are missed in this procedure. Hence, in premarital screening program precise molecular investigation especially when the partner is a typical β-thalassemia carrier is recommended. |
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| کلیدواژه‌های انگلیسی مقاله |
β-thalassemia, Hb Knossos, Premarital screening |
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| نویسندگان مقاله |
حسین کرمی | hossein karami
thalassemia research center, mazandaran university of medical sciences, sari, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مازندران (Mazandaran university of medical sciences)
حسین جلالی | hossein jalali
students research committee, thalassemia research center, mazandaran university of medical sciences, sari, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مازندران (Mazandaran university of medical sciences)
مهراد مهدوی | mehrad mahdavi
sina mehr research center, sari, iran
محمدرضا مهدوی | mohammad reza mahdavi
thalassemia research center, mazandaran university of medical sciences, sari, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مازندران (Mazandaran university of medical sciences)
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| نشانی اینترنتی |
http://rmm.mazums.ac.ir/browse.php?a_code=A-10-856-2&slc_lang=en&sid=en |
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دریافت فایل مقاله |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
هماتولوژی و انکولوژی کودکان |
| نوع مقاله منتشر شده |
گزارش مورد |
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