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Low Prevalence of the HBB c.20A > T (HbS) Allele in a Turkish Cypriot Cohort: A Molecular Screening Study
Emine Kandemis1, Saadatu Sani Sulamain1, Havva Cobanogullari2
1Department of Medical Biology, Faculty of Medicine, Near East University, Nicosia, Cyprus.
Insights
Sickle cell disease (HbS) is uncommon in Turkish Cypriots. This study found a low carrier frequency of 1.5%, supporting ongoing screening and counseling for hemoglobinopathies.
Area of Science:
- Genetics
- Molecular Biology
- Public Health
Background:
- Sickle cell disease is a genetic disorder caused by the HBB c.20A>T variant (p.Glu6Val; HbS).
- Cyprus has a hemoglobinopathy prevention program, but data on HbS in Turkish Cypriots is limited.
- Understanding carrier frequencies is crucial for effective public health strategies.
Purpose of the Study:
- To determine the frequency of the HbS variant in an unrelated Turkish Cypriot adult population.
- To assess the carrier status for sickle cell disease in this demographic.
- To inform public health policies regarding hemoglobinopathy screening.
Main Methods:
- Genotyping of the HBB c.20A>T variant using PCR-RFLP and allele-specific real-time PCR.
- Analysis of genotype distribution for Hardy-Weinberg equilibrium.
- Inclusion of 200 unrelated Turkish Cypriot adults.
Main Results:
- No homozygous HbS genotype was detected in the cohort.
- Three individuals were identified as heterozygous carriers (AS), resulting in a carrier frequency of 1.5%.
- The HbS allele frequency was 0.7%, and genotype distribution was consistent with Hardy-Weinberg equilibrium (p=0.916).
Conclusions:
- Sickle cell hemoglobin HbS is uncommon in the studied Turkish Cypriot population.
- Continued surveillance and integration of HbS counseling into screening programs are recommended.
- Monitoring potential changes in carrier frequencies due to migration is important.
Abstract:
Sickle cell disease is caused by the HBB c.20A > T (p.Glu6Val; HbS) variant. Although Cyprus has a long-standing hemoglobinopathy prevention program, current population-specific data on HbS among Turkish Cypriots remain limited. Two hundred unrelated Turkish Cypriot adults were included. The HBB c.20A > T variant was genotyped by PCR-RFLP and confirmed by allele-specific real-time PCR. Genotype distribution was evaluated for Hardy-Weinberg equilibrium. No homozygous HbS genotype was detected. Three individuals were heterozygous carriers (AS), corresponding to a carrier frequency of 1.5%. The HbS allele frequency was 0.7%, and the genotype distribution was consistent with Hardy-Weinberg equilibrium (p = 0.916; chi-square = 0.011). HbS was uncommon in this Turkish Cypriot cohort. These findings support continued hemoglobinopathy surveillance and the integration of HbS counseling into existing premarital and population screening strategies, particularly as migration may alter local carrier frequencies over time.