Detection of [alpha]-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

[alpha]-thalassemia is the most common single gene disorder in the Cukurova Region in Turkey. It is therefore routinely screened, including premaritally, in our region. The heterogeneous molecular basis of the disease makes [alpha]-thalassemia mutation detection difficult and complex. Besides well e...

Full description

Saved in:
Bibliographic Details
Published in:Indian journal of hematology & blood transfusion 2016-12, Vol.32 (4), p.454
Main Authors: Yuregir, Ozge Ozalp, Ayaz, Akif, Yalcintepe, Sinem, Canbek, Sezin, Acik, Didar Yanardag, Yilmaz, Basak Taburoglu, Balci, Tugce B
Format: Article
Language:English
Subjects:
Anemia
Genetic disorders
Hematology
Mutation
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:[alpha]-thalassemia is the most common single gene disorder in the Cukurova Region in Turkey. It is therefore routinely screened, including premaritally, in our region. The heterogeneous molecular basis of the disease makes [alpha]-thalassemia mutation detection difficult and complex. Besides well established methods, multiplex ligation dependent probe amplification (MLPA) is known as an effective, simple and specific method for the detection and characterization of deletions and duplications. We employed MLPA testing to 30 patients with hematological parameters suggestive of [alpha]-thalassemia carrier status but was negative for [alpha]-thalassemia with conventional reverse dot blot hybridization (RDB). We found [alpha]-globin gene deletions in 3 out of 30 (10 %) patients with MLPA. We propose that MLPA can be used as a second tier test in addition to other techniques such as RDB to identify [alpha]-thalassemia carriers in high prevalence regions such as ours, thereby allowing clinicians to provide accurate genetic counselling.
ISSN:0974-0449
0971-4502
DOI:10.1007/s12288-015-0617-z