Evaluation of β-thalassemias in the premarital hemoglobinopathy screening program: A retrospective study.

Abstract

Objective: To retrospectively evaluate β-thalassemias in the premarital hemoglobinopathy screening program in primary care.

Methods: The retrospective study was carried out in Bursa Uludag University Family Health Center in Turkey between 1-30 September 2023. In the study, the data of individuals who applied to the Family Health Center for premarital health examination within the four years between January 1, 2019, and December 31, 2022, were taken from the database and evaluated retrospectively. Family history of hemoglobinopathy, sociodemographic findings, existing diseases, allergies, cancer, and genetic disease conditions were obtained. Complete blood count, and high-performance liquid chromatography (HPLC) results were examined. P-values below 0.05 were considered statistically significant. Analyzes were made in the SPSS 25.0 program.

Results: A total of 327 people, 171 men (52.3%) and 156 (47.7%) women, participated in the study. It was determined that the age of the individuals was 30.17±6.16. The average Mentzer index levels were found to be 12.95±4.56. Places of birth are Mediterranean with 8.3% and other regions with 91.7%. β-thalassemia type detected in family medicine was suspected with a rate of 1.5% and carrier with a rate of 0.6%. The rate of patients referred to a hematologist was found to be 2.1%. The rate of patients with a definitive diagnosis was determined as 1.8%. It was determined that β-thalassemia definitive diagnosis rates were higher in groups whose place of birth was the Mediterranean region, with a family history of thalassemia, with a diagnosis of cancer, and with a genetic, allergic, and chronic disease diagnosis (p=0.01).

Conclusion: Although it is not located in the Mediterranean region, the high prevalence of β-thalassemia in our population and its relationship with diseases are important. We emphasize the importance of a premarital screening program for the diagnosis of β-thalassemia due to its increasing frequency and complications in the globalizing world.