دورية أكاديمية
alpha-Thalassemia mutation analyses in Mazandaran province, North Iran.
| العنوان: | alpha-Thalassemia mutation analyses in Mazandaran province, North Iran. |
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| المؤلفون: | Tamaddoni A; Amirkola Thalassemia Center, Babol University of Medical Science, Babol, Iran., Hadavi V, Nejad NH, Khosh-Ain A, Siami R, Aghai-Meibodi J, Almadani N, Oberkanins C, Law HY, Najmabadi H |
| المصدر: | Hemoglobin [Hemoglobin] 2009; Vol. 33 (2), pp. 115-23. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 7705865 Publication Model: Print Cited Medium: Internet ISSN: 1532-432X (Electronic) Linking ISSN: 03630269 NLM ISO Abbreviation: Hemoglobin Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: London : Informa Healthcare Original Publication: New York, Dekker. |
| مواضيع طبية MeSH: | alpha-Globins/*genetics , alpha-Thalassemia/*epidemiology , alpha-Thalassemia/*genetics, DNA Mutational Analysis ; Genetic Testing ; Hematologic Tests ; Humans ; Iran/epidemiology |
| مستخلص: | Two hundred and fifty-five patients from Mazandaran Province, Iran, all presenting with hypochromic and microcytic anemia, were selected for alpha-thalassemia (alpha-thal) mutation screening. We detected a total of 274 alpha-globin mutations in 227 (89%) of these patients. Among the 21 different alpha-globin alleles found, the -alpha(3.7) (44.9%), polyadenylation signal 2 (poly A2) (AATAAA>AATGAA) (18.2%), -alpha(4.2) (9.1%), alpha(IVS-I(-5 nt)) (6.5%), - -(MED) (4.3%), and alpha(codon 19 (-G)) (4%) were the most frequent. The other 15 mutations included variants that had not yet been observed in Iran, such as Hb Bleuland [alpha108(G15)ThrAsn, ACC>AAC (alpha2)], as well as a novel mutation on the alpha2 gene, also not described to date [3 ' untranslated region (3 'UTR) nucleotide (nt) 46 (C>A)]. These comprehensive new data are useful for establishing a screening strategy for the effective control of alpha-thal in Mazandaran Province. |
| المشرفين على المادة: | 0 (alpha-Globins) |
| تواريخ الأحداث: | Date Created: 20090418 Date Completed: 20090618 Latest Revision: 20091119 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1080/03630260902817297 |
| PMID: | 19373587 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1532-432X |
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| DOI: | 10.1080/03630260902817297 |