Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia

Hemoglobinopathies represent a major public health concern in Tunisia. Although early diagnosis is essential, systemic neonatal screening has not yet been implemented at the national level. We conducted a screening study in Northern Tunisia (Bizerte region) using cord blood samples. Complete blood counts and hemoglobin analysis by capillary electrophoresis were performed. Samples showing abnormal profiles (HbBart's, HbS, HbC, or HbA < 20%) underwent molecular testing. Correlations between hematological parameters, hemoglobin fractions, and β mutation types were assessed. Among 328 neonatal cord blood samples analyzed, we detected 3 silent α⁺-thalassemia, 6 β⁺-thalassemia traits, 3 β⁰-thalassemia traits, 7 HbS traits, 2 HbC traits, and 1 compound heterozygous for α⁺-thalassemia/HbC. No homozygous cases were identified. The heterozygous frequency was estimated at 1.2%, 2.7%, and 2.1% for α-thalassemia, β-thalassemia, and sickle cell disease, respectively. HbF levels were significantly associated with the β-thalassemia trait. This study represents the first hemoglobinopathy screening in Northern Tunisia using cord blood, highlighting the feasibility and reliability of this approach. While pilot programs have already been initiated in some regions, our findings reinforce the need for broader implementation to ensure early and accurate diagnosis across the country.