Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey.
α-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 α-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 α-thalassemia carrier status but was negative for α-thalassemia with conventional reverse dot blot hybridization (RDB). We found α-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 α-thalassemia carriers in high prevalence regions such as ours, thereby allowing clinicians to provide accurate genetic counselling.
Genetic Diagnosis Center, Numune Training and Research Hospital, Kurttepe Street, Cukurova, 01150 Adana, Turkey.
Ozge Ozalp
OO
Yuregir
Genetic Diagnosis Center, Numune Training and Research Hospital, Kurttepe Street, Cukurova, 01150 Adana, Turkey.
Akif
A
Ayaz
Genetic Diagnosis Center, Numune Training and Research Hospital, Kurttepe Street, Cukurova, 01150 Adana, Turkey.
Sinem
S
Yalcintepe
Genetic Diagnosis Center, Numune Training and Research Hospital, Kurttepe Street, Cukurova, 01150 Adana, Turkey.
Sezin
S
Canbek
Department of Hematology, Numune Training and Research Hospital, Adana, Turkey.
Didar Yanardag
DY
Acik
Department of Pediatric Hematology, Numune Training and Research Hospital, Adana, Turkey.
Basak Taburoglu
BT
Yilmaz
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Tugce B
TB
Balci
Multiplex ligation dependent probe amplification; Reverse dot blot hybridization; Southern Turkey; α-Thalassemia