Screening For Hemoglobinopathies Research Articles

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

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. doi: https://doi.org/10.12669/pjms.41.2.10024 How to cite this: Goktas O. Evaluation of β-thalassemias in the premarital hemoglobinopathy screening program: A retrospective study. Pak J Med Sci. 2025;41(2):590-597. doi: https://doi.org/10.12669/pjms.41.2.10024 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia.

This study aimed to develop and validate a targeted next-generation sequencing (NGS) panel along with a data analysis algorithm capable of detecting single-nucleotide variants (SNVs) and copy number variations (CNVs) within the beta-globin gene cluster. The aim was to reduce the turnaround time in conventional genotyping methods and provide a rapid and comprehensive solution for prenatal diagnosis, carrier screening, and genotyping of β-thalassemia patients. We devised a targeted NGS panel spanning an 80.4 kb region on chromosome 11, encompassing the beta-globin gene cluster and 5' locus control region. We also developed an advanced data analysis algorithm consisting of variant calling and depth plot analysis that facilitates simultaneous detection of SNVs and CNVs in a single run. The test panel and algorithm were validated with 14 in-house β-thalassemia carrier/patient samples and cross-checked against the HbVar database. We identified seven pathogenic SNVs and five CNVs within the beta-globin gene cluster in various combinations, such as heterozygous, homozygous, and compound heterozygous conditions. Additionally, the coordinates of 169 rare deletions and 11 fusion mutations reported in the HbVar database were checked to verify the theoretical ability of our developed gene panel to detect all the CNVs within the target region. The developed panel and NGS technology can detect both SNVs and CNVs in a single run and can also be utilized for prenatal diagnosis and carrier screening for hemoglobinopathies, underscoring its versatility and clinical utility.

Attitude and Knowledge of Participating Couples Towards the Premarital Hemoglobinopathy Screening Program in Duhok–Iraq.

Background and Objectives: The premarital screening program for hemoglobinopathies was initiated in the Kurdistan region nearly 15 years ago. In the current study we aimed to assess the attitude and knowledge of the targeted couples, since these are among the main determinants of its success. Methods: In this cross-sectional study we recruited consecutive 1100 couples attending premarital screening center in Duhok-Iraq between November 2022 and March 2023. The participants had their demographic data collected, and attitude towards the premarital screen was assessed. A subgroup was further scrutinized on their knowledge on the program and hemoglobinopathies. Results: While 99.8% of enrollees considered premarital screen important, only 10.5% choose to abandon their marriage plans if they were identified as couples-at-risk. Of those proceeding with marriage, 94% wanted to do testing to determine whether their babies are affected, yet only 5.7% would consider aborting it, citing religious or cultural prohibition. In the subset where knowledge was assessed, it was found that only 6% and 20% had good knowledge as it related to hemoglobinopathies and premarital program respectively. There was a significant association between positive attitude and knowledge (p=0.019). Conclusions: The current study underscores the barriers facing the successful implementation of the premarital program and the serious knowledge gaps among the public about it. The need to introduce targeted educational initiatives to better inform the public of their choices is paramount.

Iron Deficiency in Collegiate Athletes Obtaining Preparticipation Hemoglobinopathy Screening in the Upper Midwest.

Iron and other biologically important metals are essential to mitochondrial function but are not routinely evaluated. Their equilibrium is critical to the optimal performance of cells with high metabolic activity such as neurons, cardiomyocytes, and skeletal myocytes. Teenagers are at a high risk of iron deficiency even without anemia. Metal ion imbalances can cause cognitive impairments, muscle weakness, and sudden cardiac death. We aim to assess the current prevalence of iron deficiency among collegiate athletes in the Upper Midwest. Our study is a multicenter, retrospective chart review of outpatient clinics in a regional healthcare system between January 2012 and December 2023, and a national public database between 2017 and March 2020. We reviewed the ferritin concentrations of regional collegiate athletes having preparticipation sport evaluations and nationally in the NHANES database. We identified 643 unique individuals aged 16-21 years with 253 having ferritin screening. Iron deficiency (ferritin <20mcg/L) was present in 24.5% and hypoferritinemia (ferritin <50mcg/L) was present in 66.7% of collegiate athletes. From the NHANES database, 12.7% of active sampled participants aged 16-21 years were iron deficient. Our study findings suggest the need for universal screening for iron deficiency among collegiate athletes given the high prevalence of iron deficiency in both the retrospective chart review and NHANES database analysis. Given the critical role of metal ion homeostasis to optimal mitochondrial function, these findings may warrant the inclusion of ferritin testing in cardiac, neurological, and skeletal muscle evaluations.

Prevalence and screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in Yemeni blood donors

ABSTRACT Hemoglobinopathies and Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency pose significant health threats in Yemen, which can be alleviated through robust preventive strategies, highlighting the importance of implementing a cost-effective and efficient blood donor screening method to facilitate early diagnosis and management of erythrocyte disorders, ultimately improving both donor safety and patient health outcomes. Objectives This study aimed to determine the prevalence of total blood cell abnormalities, hemoglobinopathies and G6PD deficiency and evaluate the efficacy of red blood cell (RBC) indices, mentzer index (MI) and naked-eye single tube red cell osmotic fragility (NESTROF) test as screening tools for diagnosis of β thalassemia trait among Yemeni blood donors. Methods A cross-sectional study was conducted with 106 volunteer blood donors who met the national standard criterion of blood donation. Various tests were performed, including complete blood count (CBC), serum ferritin, sickling test, G6PD assay, NESTROF test and high-performance liquid chromatography (HPLC). Results The prevalence of hematological abnormalities among blood donors reached 68.9%, with functional RBC abnormalities at 51.9%, leukopenia at 10.4%, thrombocytosis at 1.9%, and thrombocytopenia at 4.7%. Additionally, hemoglobinopathies were found in 21.7% of donors, with β-thalassemia trait at 3.8%, sickle cell trait at 1.9%, and suspected α-thalassemia trait at 16%, while G6PD deficiency and iron deficiency were present in 12.3% and 17.9% of donors, respectively. The NESTROF test, MCV and MCH demonstrated a sensitivity rate of 100%. MI and MCH exhibited the highest specificity followed by NESTROF test in the screening of β-thalassemia trait. Conclusions The prevalence of hemoglobinopathies and G6PD deficiency appear to be common among Yemeni blood donors. These results emphasize the necessity of comprehensive blood donation screening programs to safeguard the blood supply and promote early detection and management of hemoglobinopathies and G6PD deficiency in Yemen.

Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis

BackgroundHemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country. MethodsHealthy blood donors of the BRO Biobank were included in this study. Blood samples were analyzed using an automatic blood cell analyzer for complete blood counts. Hemoglobin fractions were analyzed by capillary electrophoresis and serum ferritin was measured on a chemical and immunological analyzer. Suspected hemoglobinopathy carriers were further characterized by Sanger sequencing, Gap PCR and PCR-RFLP. ResultsThe study involved 2013 blood donors, of whom 1063 were male and 950 were female (sex ratio male-to-female of 1.1). The median age of these donors was 35 years. The overall carrier frequency of hemoglobinopathies was 1.84 %, with β-thalassemia carriers being the most prevalent (0.65 %) followed by HbAC (0.55 %), α-thalassemia carriers (0.30 %), HbAS (0.1 %), HbAG-Philadelphia (0.1 %), HbAD-Ouled Rabah (0.05 %) and HbAO-Arab (0.05 %). Additionally, novel β-thalassemia variants (C6(−G) and −83(A > G)) and a structural variant (Hb D-Ouled Rabah) were discovered for the first time in Morocco. ConclusionsThis study provided the first report on carrier frequency and molecular basis of hemoglobinopathies among healthy donors in Morocco. These findings are valuable for the implementation of carrier screening and genetic diagnosis for hemoglobinopathies. Furthermore, these results justify the need to introduce pre-donation screening for hemoglobinopathy carriers in Morocco, particularly in areas with a high prevalence of carriers to enhance the overall quality of the national blood supply.

Comparative Study of Red Blood Cell Parameters in Different Hemoglobinopathies Diagnosed by HPLC at a Tertiary Care Hospital, Rajkot, Gujarat

Background: Inherited disorders of hemoglobin (hemoglobinopathies) are the most common genetic disorders in the world with 7% prevalence. Thalassemia and sickle cell anemia are the most prevalent hemoglobinopathies in India. Screening and diagnosis of hemoglobinopathies require a comprehensive evaluation combining clinical and family history, blood counts, red blood cell indices, and molecular analysis. Aims and Objective: (1) To differentiate the type of hemoglobinopathies on the basis of red cell parameters, (2) to assess the spectrum of hemoglobinopathies, and (3) to study the age at diagnosis and genderwise distribution of various hemoglobinopathies. Material and Methods: A prospective observational study over a period of 1 year (August 2020 to July 2021) at a tertiary care hospital, Rajkot, Gujarat. All indoor patients’ samples were sent for complete blood count (CBC), peripheral smear examination, reticulocyte count, sickling test, and high-performance liquid chromatography (HPLC). Result: A total of 140 subjects were included in the final analysis. The mean age at diagnosis was 24.7 ± 10.5 years; 48 participants were male, and the remaining 92 were female with an M:F ratio of 0.5:1. The most common hemoglobinopathy in this study was sickle cell trait (40 cases, 28.6%). Conclusion: To reduce the burden of various hemoglobinopathies, screening is recommended as a part of antenatal checkup and in infants after 6 months of age in high-prevalence districts for particular hemoglobinopathies via CBC including RBC indices and HPLC.

Ten years of a neonatal screening program for hemoglobinopathies in Friuli-Venezia Giulia: first regional experience in Italy.

Hemoglobinopathies are the commonest genetic defect worldwide (7% of the world's population has at least one hemoglobin mutation). Although prenatal screening for hemoglobinopathies is not obligatory during pregnancy in Italy, it is offered to women by the Italian National Health Service in the pre-conception phase. The screening of newborns is a valid alternative, and has been adopted in various European countries, albeit in a piecemeal fashion. Neonatal screening has the advantage of providing early diagnosis of a hemoglobinopathy. Here we report the findings from the experience with neonatal screening in Friuli-Venezia Giulia since 2010. The hemoglobinopathy screening project in Friuli-Venezia Giulia, a Region in north Italy, began in November 2010. High-performance liquid chromatography was performed on dried blood spot samples collected by obstetric nurses from neonates within 5-8 days after birth. From 2010 to 2019, 11,956 newborns were screened, and abnormal hemoglobin was found in 519 of them (4.34%): the variants identified included HbS, HbC, HbD, HbE and HbX. More specifically, the HbS variant was observed in 347 (2.9%) newborns and the homozygous pattern was identified in 24 (0.2%) cases. The screening also detected two cases of β-thalassemia major. We report our experience of 10 years of screening newborns for hemoglobinopathies in the Region of Friuli-Venezia Giulia, in which 7.7% of people come from malaria-endemic areas. Increased mobility and migratory flows bringing in hemoglobinopathy carriers from endemic areas have led to an increase in mutations in non-malarial countries, with a current incidence of around 4% in the newborns we tested. This means that hemoglobinopathies can be described as a rare condition. Our data show that incidence rates are comparable to those of other inherited disorders such as phenylketonuria, thereby justifying the inclusion of the test for hemoglobinopathies into screening programs for rare diseases.

Reemergence of Hemoglobin Yukuhashi

Abstract The abnormal hemoglobin, Hb Yukuhashi, identified in Japan in 1963, exhibits slower migration compared to Hb A and is associated with target cells on peripheral smear. A similar hemoglobin, Hb Dhofar, is found in an Omani tribesman and is defined as a substitution of arginine for proline at the 58th amino acid position of the beta-globin chain. Despite both Yukuhashi and Dhofar seemingly arising from the same exonic point mutation, variations in expression were clarified through beta-globin gene amplification. Hb Dhofar, unlike Yukuhashi, was linked to a splice-site mutation at codon 29, explaining its reduced expression. Despite these hemoglobins’ structural alterations, their functional properties on a molecular level, including oxygen affinity and heme-heme interaction, remained largely unaffected. While mutations at codon 58 have been observed alongside other mutations in Hb Dhofar and Hb C-Ziguinchor, this case represents the first sequencing and report of a beta-globin gene mutation solely at codon 58, as only Yukuhashi’s protein coding region had been sequenced, not the whole gene. “Hemoglobin D” was detected on newborn screening of a male child with no other significant medical history or physical abnormalities. Capillary Electrophoresis and Cation-Exchange HPLC showed abnormal hemoglobin fractions, with 20.1% in the S Zone and 25.7% in the D-window, respectively. This led to a presumptive diagnosis of Hemoglobin Dhofar trait; however, discrepancies in hematologic parameters and relative hemoglobin levels were noted. Genetic testing of the Beta Globin gene confirmed a C to G substitution at codon 58 but lacked the characteristic codon 29 mutations associated with Hemoglobin Dhofar. The patient, was discovered to possess a mutation at codon 58 on the beta globin gene, a mutation not previously reported in isolation. In contrast to previous studies on Hb Dhofar, where variant Hb levels were lower and accompanied by abnormal RBC indices indicative of beta thalassemia trait, this case exhibited higher variant Hb levels with normal RBC indices, suggestive of a typical beta globin variant. The mutation at codon 58 did not significantly alter intermolecular interactions of the globin which may mean the variant is clinically asymptomatic in nature. Continued follow-up is necessary to confirm this suspicion, although initial assessments at 3 and 6 months of age showed normal RBC parameters. This case represents the first instance of an isolated mutation at codon 58 of the beta globin gene, emphasizing the need to consider this mutation in interpreting hemoglobinopathy screening results.

Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR)

REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years. An observational, descriptive, multicentre and ambispective study of adult and paediatric patients with haemoglobinopathies and rare anaemias registered in REHem was performed. The data are from a cross-sectional analysis performed on 1 June, 2023. The study population comprised 1,756 patients, of whom 1,317 had SCD, 214 had thalassaemia and 224 were diagnosed with another condition. Slightly more than one third of SCD patients (37%) were diagnosed based on neonatal bloodspot screening, and the mean age at diagnosis was 2.5 years; 71% of thalassaemia patients were diagnosed based on the presence of anaemia. Vaso-occlusive crisis and acute chest syndrome continue to be the most frequent complications in SCD. HSCT was performed in 83 patients with SCD and in 50 patients with thalassaemia. Since the previous publication, REHem-AR has grown in size by more than 500 cases. SCD and TM are less frequent in Spain than in other European countries, although the data show that rare anaemias are frequent within rare diseases. REHem-AR constitutes an important structure for following the natural history of rare anaemias and enables us to calculate investment needs for current and future treatments.

New Born Screening of Hemoglobinopathies in a Center Tunisian Population.

Sickle cell diseases, β-thalassemia, and other hemoglobinopathies are common in Africa. Their distribution differs from one region to another. There are higher frequencies in Western and Northern Africa. Their clinical complications presented a real public health problem in each country. For this, early treatment can improve the severity of these diseases. Hemoglobinopathies targeted by screening are associated with SCD, β, and α thalassemia. Our study aim is to report our experience with newborn screening for hemoglobinopathy in Tunis. The 156 newborn's cord blood was collected at the time of childbirth in the center region (Farhat Hached Hôspital). We opted for hemoglobin exploration to achieve maximum efficiency and effectiveness in screening. After that, all patients suspected to have hemoglobinopathies are affected by molecular investigation. Our findings showed the presence of some hemoglobinopathies such as β-thalassemia and α-thalassemia with the following frequencies: 12% and 0.33%. The molecular results show the presence of HBB: c.93-21G>A, IVS-I-110G>A, HBBc. -106G>A -56G>C, HBBc.404T>C, Hb Yaounde described for the first time in Tunisia and α 3,7 . In conclusion, newborn screening diagnoses neonates with different examples of hemoglobinopathies, which will be beneficial not only for the care of the child but also for genetic counseling of the potential risk's parents.

Comparison of High-Performance Liquid Chromatography and Capillary Electrophoresis in the Screening of Haemoglobinopathies

Comparison of High-Performance Liquid Chromatography and Capillary Electrophoresis in the Screening of Haemoglobinopathies

Hemoglobin Variants in Patients Attending Aden Diagnostic Center by High Performance Liquid Chromatography

Introduction: High performance liquid chromatography (HPLC) is emerging as the method of choice for initial screening and diagnosis of hemoglobinopathies. The use of alkaline and acid gel electrophoresis may result in incorrect diagnosis of hemoglobinopathies. The aim of the study is to investigate the hemoglobin pattern using the HPLC and to correlate the hematological profile with the types of hemoglobin. Methods: A cross-sectional study was conducted in Aden Diagnostic Center from July– December 2022. Over a six-month period, 250 samples of patients aged between six months to thirty years, were evaluated by HPLC for detection of hemoglobinopathies using the Lifotronic Hemoglobin Analyzer H9: β-thalassemia Analysis Mode. Red blood cell and red cell indices were determined using automated hematology analyzer. Results: A total of 152 samples (60.8%) showed different abnormal hemoglobin variants. Sixty-four (25.6%) were diagnosed to have sickle cell anemia, 46 (18.4%) as sickle cell trait, two (0.8) as beta – heterozygous thalassemia based on high level of HbA2 (&gt;3.9%), four (1.6%) as beta – homozygous thalassemia (HbF 25–91%), 18 (7.2%) as compound heterozygous state of sickle - β+ thalassemia, 17 (6.8%) as beta thalassemia trait, and one (0.4%) sample had HbD variant on HPLC was diagnosed as HbD trait. Conclusion: H9-HPLC is suitable for the routine investigation of hemoglobinopatheis because it is very powerful tool in the evaluation of Hb variants, rapid assay time and accurate quantification.

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.

Hemoglobinopathies are the commonest monogenic disorder worldwide, with approximately seven percent of the world population being carriers of hemoglobinopathies. The healthcare utilization impact of thalassemia has resulted in global public health initiatives to screen for hemoglobinopathies, especially sickle cell disease (SCD). The Iowa Newborn Screening Program (INSP) has been in place for more than 50 years with a primary focus on detecting SCD. Recent changes in migration patterns have led to a global distribution of hemoglobinopathies in the western world, which has translated to an increase in the diagnosis of SCD and the incidental detection of non-sickling hemoglobinopathies within the INSP. This study documents the birth prevalence of hemoglobinopathies diagnosed in newborns through the INSP and highlights the need for newborn screening programs to evolve to meet the healthcare needs of underserved, minority populations.

Screening for Hemoglobinopathies in Pregnant Women of Haroti Region: A Guide for Surveillance, Diagnosis and Prevention

Screening for Hemoglobinopathies in Pregnant Women of Haroti Region: A Guide for Surveillance, Diagnosis and Prevention

Significance of premarital screening and genetic counselling program for hemoglobinopathies

Introduction: Premarital screening includes general medical examination by which the promotion of a woman's and her partner's health and well-being prior to conception. It is regarded as a primary preventive approach for couples planning to conceive, as well as an important step toward protecting society of disease's spread. Hemoglobinopathies are one of the most frequent autosomal recessive illnesses in Iraq, which may associate with significant mortality and morbidity. Its inherited disorders and run down through families. Humans are affected by this disorder, which can occur due to the presence of quantitative and, or qualitative irregularities in the globin chains. Hemoglobin (Hb)S, which causes sickle cell disease (SCD), Hb-C or Hb-D illness, and other qualitative abnormalities, is the most prevalent. α- and β-thalassemia are quantitative anomalies with reduced or missing production of β or α globin chains are the most common. The world's most common single-gene diseases, particularly in the Eastern Mediterranean region, which includes Iraq Conclusion :All of the above data support the concept of a haemoglobinopathies prevention program based on premarital screening, counseling, and prenatal diagnosis with the aim of decrease the number of afflicted children born in the region

Premarital screening of haemoglobinopathies: Experience of the major centre of Diyala Governorate, Iraq

Premarital screening of haemoglobinopathies: Experience of the major centre of Diyala Governorate, Iraq

359 Hemoglobinopathy screening in the era of expanded carrier screening: is hemoglobin electrophoresis necessary?

359 Hemoglobinopathy screening in the era of expanded carrier screening: is hemoglobin electrophoresis necessary?

Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa.

Haemoglobinopathies, including sickle cell disease and β-thalassaemia, are monogenic disorders with a relatively higher prevalence among malaria-endemic areas in Africa. Despite this prevalence, most African countries lack the necessary resources for diagnosing and managing these debilitating conditions. This study provides a critical review of newborn screening for detecting haemoglobinopathies in Africa, highlighting challenges and proposing strategies for improved diagnosis and management. A literature search on haemoglobinopathies in Africa was conducted in PubMed, Google Scholar and ScienceDirect, using specific keywords and Boolean operators, including articles published from January 1981 to December 2022. The data show that sickle cell disease is prevalent among populations in Central and West Africa; however, β-thalassaemia is prevalent among people in the northern parts of Africa. Newborn screening pilot initiatives for haemoglobinopathies were being implemented in Angola, Nigeria, Ghana, the Democratic Republic of Congo and the Republic of Benin. The cost of testing, lack of sufficient and accessible medical records, and inadequacy in healthcare infrastructure pose significant challenges in bridging the gaps in newborn screening. Furthermore, the stigmatisation and lack of awareness of haemoglobinopathies and access to newborn screening programmes pose additional challenges. This review highlights the challenges associated with haemoglobinopathy testing, effective strategies for mitigating these challenges, and future perspectives for expanding efforts toward detecting and managing these disorders across Africa. Providing affordable diagnostic tools, mobile clinics, government subsidies, education campaigns, and the implementation of electronic medical records systems could help bridge the gaps in newborn screening in Africa. The study presents a comprehensive view of newborn screening of haemoglobinopathies in Africa, provides a detailed outline of the challenges faced by newborn screening for haemoglobinopathies in Africa, and offers strategies for better diagnosis and care.

Premarital hemoglobinopathy screening program results of a province in the Black Sea region of Turkey: three years’ experience

ABSTRACT Objectives Hemoglobinopathies are a global public health problem with high mortality and morbidity and very expensive treatment. Disease can be reduced and prevented with hemoglobinopathy screening tests. It is possible to identify carriers with the hemoglobinopathy screening program applied in many countries of the world and in Turkey. This study aims to evaluate the results of the national premarital hemoglobinopathy screening program carried out in primary healthcare institutions. Methods The research is of epidemiological and cross-sectional type. Electrophoresis results examined within the scope of the premarital hemoglobinopathy screening program in Samsun between 1 January 2019 and 31 December 2021 were evaluated retrospectively. Age, gender, year of screening, and hemoglobinopathy screening results were obtained from the records. In the statistical analysis of the data, p < 0.05 was accepted. Results The median age of 52,338 people screened under the hemoglobinopathy screening program was 29.0 (16.0–86.0) years. About 54.1% (n = 28,309) of those who were screened were female, and it was found that the least screening was done in 2020 (n = 15,765 (30.1%)). As a result of the screening, the frequency of the β-thalassemia (β-thal) trait was 1.37% (n = 676), the frequency of the abnormal HbS was 0.04% (n = 20). The frequency of β-thal trait was statistically significantly higher in 2020 (1.5%) compared to other years (p = 0.029). When the results were analyzed by gender, the rate of women with abnormal HbS (3.7%) was significantly higher than the others (p = 0.017). Conclusions This study presents the results of the national hemoglobinopathy screening program in Northern Turkey and the β-thal and the abnormal HbS rates were found to be low. The data obtained will be useful in monitoring hemoglobinopathy disorders and evaluating the current program’s effectiveness in the future. It will allow decision-makers to implement policy changes and prioritize new programs.