(2005) The IVS-II-1 (G → A) β0-thalassemia mutation in CIS with HbA2-troodos δ116(G18)Arg → Cys (CGC →TGC) causes a complex prenatal diagnosis in an Iranian family. Hemoglobin. pp. 289-292. ISSN 03630269 (ISSN)
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Abstract
□ The β-thalassemia (thal) minor phenotypes with normal Hb A 2 levels and decreased MCV and MCH values are relatively rare β-thal traits. Here, we describe a family with normal Hb A2 and decreased MCV and MCH levels. Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) revealed the IVS-II-1 (G→A) mutation in the β-globin gene of the proband and her father. Direct sequencing of the δ-globin gene of the proband and her father also revealed a previously reported variant called Hb A2-Troodos δ116(G18)Arg→Cys in cis with the IVS-II-1 (G→A) β0-thal mutation. This is the first case report of Hb A 2-Troodos in association with the β0 IVS-II-1 mutation. Reduced Hb A2 expression by a concomitant Hb A2 β-thal in cis or trans, may cause problems in carrier diagnostics, and eventually in genetic counseling and prenatal diagnosis when insufficient molecular analyses are performed. Copyright © 2005 Taylor & Francis, Inc.
| Item Type: | Article |
|---|---|
| Keywords: | δβ mutation Hb A2-Troodos Iran Thalassemia (thal) hemoglobin A2 adult article beta thalassemia case report female gene mutation human male phenotype prenatal diagnosis beta-Thalassemia Erythrocyte Indices Family Health Hemoglobins, Abnormal Humans Point Mutation Polymerase Chain Reaction Pregnancy |
| Divisions: | |
| Page Range: | pp. 289-292 |
| Journal or Publication Title: | Hemoglobin |
| Journal Index: | Scopus |
| Volume: | 29 |
| Number: | 4 |
| Identification Number: | https://doi.org/10.1080/03630260500310828 |
| ISSN: | 03630269 (ISSN) |
| Depositing User: | مهندس مهدی شریفی |
| URI: | http://eprints.bmsu.ac.ir/id/eprint/950 |
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