Hemoglobinopathies in the Çukurova Region and Neighboring Provinces

Area of Science:

• Genetics and Molecular Biology
• Hematology
• Population Health

Background:

• Thalassemias and abnormal hemoglobins (Hbs) represent significant public health concerns globally.
• Understanding the regional mutation spectrum is crucial for developing targeted screening and management strategies.
• The Çukurova region's specific genetic landscape for these disorders was previously underexplored.

Purpose of the Study:

• To determine the mutation spectrum of thalassemias and abnormal hemoglobins in the Çukurova region and surrounding provinces.
• To contribute to the creation of a comprehensive mutation map for these hematological conditions.
• To establish the frequency of different Hb mutations within the studied population.

Main Methods:

• Analysis of 8135 samples from five Turkish provinces (Adana, Hatay, Mersin, Konya, Kayseri) between 1993 and 2014.
• Utilized complete blood cell counts, Hb typing via cellulose acetate electrophoresis and HPLC.
• Employed microarray, RFLP, ARMS, and gap-PCR for molecular determination of Hb mutations in extracted genomic DNA.

Main Results:

• Out of 8135 samples, 1382 (17%) were identified as carrying Hb mutations.
• Abnormal Hbs were the most frequent (59.7%), followed by beta-thalassemia (30.7%) and alpha-thalassemia (9.9%) mutations.
• Hb S was the most common abnormal Hb; IVS-I-110 (G>A) was the most frequent beta-thalassemia mutation, and the 3.7 kb deletion was the most common alpha-thalassemia mutation.

Conclusions:

• This study provides a detailed mutation spectrum for thalassemias and abnormal hemoglobins in the Çukurova region.
• The findings highlight the significant prevalence of these genetic blood disorders in the region.
• Establishing this mutation profile is vital for informing genetic counseling, carrier screening programs, and clinical management.