التفاصيل البيبلوغرافية
| العنوان: |
α-Globin Gene Mutations in Isfahan Province, Iran. |
| المؤلفون: |
Karamzade, Arezo, Mirzapour, Hadi, Hoseinzade, Majid, Asadi, Sara, Gholamrezapour, Tahere, Tavakoli, Parvaneh, Selebi, Mansoor |
| المصدر: |
Hemoglobin; Jun2014, Vol. 38 Issue 3, p161-164, 4p |
| مصطلحات موضوعية: |
GLOBIN genes, GENETIC mutation, BETA-Thalassemia, PRENATAL diagnosis, MEDICAL care costs, DIAGNOSIS |
| مصطلحات جغرافية: |
ISFAHAN (Iran) |
| مستخلص: |
α-Thalassemia (α-thal) encompasses a spectrum of mutations including deletion and point mutations on the α-globin chains that is characterized by a reduction or complete absence of α-globin genes. Most of the α-thal cases are deletions involving one (α+) or both (α0) α-globin genes, although point mutations (αTα or ααT) are found as well. In this study, 314 individuals with low hematological values, normal Hb A2 who were not affected with β-thal or iron deficiency, were investigated for the presence of α-thal mutations. The most common deletion was −α3.7 (rightward) with a frequency of 70.7%, followed by α−5 nt (-TGAGG) (8.7%), −α4.2 (leftward) (4.7%), the polyadenylation signal (polyA2) site (AAT AAA > AAT GAA) (4.2%), −(α)20.5 (3.8%), Hb Constant Spring [Hb CS, α142, Stop→Gln; HBA2: c.427T > C] (2.9%), polyA1 (AATAA A > AATAA G) and αcodon 19 (GCG > GC-, α2) (16%), and - -MED (0.9%). The results of this study may be valuable for designing a plan for carrier screening, premarital genetic counseling, prenatal diagnosis (PND) and reducing excessive health care costs to an affordable level in Isfahan Province, Iran. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
