Repository of Research and Investigative Information

Repository of Research and Investigative Information

Baqiyatallah University of Medical Sciences

The IVS-II-1 (G -> A) beta(0)-thalassemia mutation in cis with HbA(2)-Troodos delta 116(G18)Arg -> Cys (CGC -> TGC) causes a complex prenatal diagnosis in an Iranian family

(2005) The IVS-II-1 (G -> A) beta(0)-thalassemia mutation in cis with HbA(2)-Troodos delta 116(G18)Arg -> Cys (CGC -> TGC) causes a complex prenatal diagnosis in an Iranian family. Hemoglobin. pp. 289-292. ISSN 0363-0269

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Abstract

The beta-thalassemia (thal) minor phenotypes with normal Hb A(2) levels and decreased MCV and MCH values are relatively rare beta-thal traits. Here, we describe a family with normal Hb A 2 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 beta-globin gene of the proband and her father. Direct sequencing of the delta-globin gene of the proband and her father also revealed a previously reported variant called Hb A(2)-Troodos delta 116(G18)Arg -> Cys in cis with the IVS-II-1 (G -> A) beta(0)-thal mutation. This is the first case report of Hb A(2)-Troodos in association with the beta(0) IVS-II-1 mutation. Reduced Hb A(2) expression by a concomitant Hb A(2) beta-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.

Item Type: Article
Keywords: thalassemia (thal) delta beta mutation HbA(2)-Troodos Iran beta-thalassemia Biochemistry & Molecular Biology Hematology
Divisions:
Page Range: pp. 289-292
Journal or Publication Title: Hemoglobin
Journal Index: ISI
Volume: 29
Number: 4
Identification Number: https://doi.org/10.1080/03630260500310828
ISSN: 0363-0269
Depositing User: مهندس مهدی شریفی
URI: http://eprints.bmsu.ac.ir/id/eprint/7273

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