ISSN: 2149-2247 | E-ISSN: 2149-2549
Erciyes Medical Journal Molecular Testing for Thalassemia: Mutation Detection According to Referral Reasons and Demographic Data [Erciyes Med J]
Erciyes Med J. 2021; 43(5): 449-451 | DOI: 10.14744/etd.2021.95226

Molecular Testing for Thalassemia: Mutation Detection According to Referral Reasons and Demographic Data

Şule Altıner1, Halil Gürhan Karabulut1, Sadiye Ekinci1, Arzu Vicdan1, Nüket Kutlay1, Timur Tuncalı1, Ajlan Tükün2, Hatice Ilgın Ruhi1
1Department of Medical Genetics, Ankara University Faculty of Medicine, Ankara, Turkey
2Department of Medical Genetics, Düzen Laboratories Group, Ankara, Turkey

Objective: Thalassemia is the most common inherited blood disorder worldwide and an important public health problem in Mediterranean countries such as Turkey. In this study, we aimed to define mutation detection rates according to referral reasons based on molecular testing results.
Materials and Methods: The data of 315 patients tested for thalassemia using the reverse dot-blot method between 2007 and 2017 at the Department of Medical Genetics, Ankara University School of Medicine, were analyzed.
Results: The most frequent mutations were 3.7-kb deletion and IVS1.110 [G>A] for alpha (α)- and beta (β)-thalassemia, respectively. Statistical correlation was found between the samples identified after clinical indication and the mutation detection rate in α-thalassemia (Pearson chi-square two-sided p=0.006). Moroever, a statistically significant correlation was detected between the β-thalassemia mutation rate and positive family history (continuity-to-correction two-sided p=0.002).
Conclusion: Our results highlight the importance of positive family history and evaluation of hematologic parameters and consanguinity in mutation detection for thalassemias.

Keywords: Thalassemia, Turkey, referral reason, mutation.

Şule Altıner, Halil Gürhan Karabulut, Sadiye Ekinci, Arzu Vicdan, Nüket Kutlay, Timur Tuncalı, Ajlan Tükün, Hatice Ilgın Ruhi. Molecular Testing for Thalassemia: Mutation Detection According to Referral Reasons and Demographic Data. Erciyes Med J. 2021; 43(5): 449-451

Corresponding Author: Şule Altıner, Türkiye
LookUs & Online Makale