Prevalence and Assessment of the Appropriate Laboratory Indices for Screening of Hemoglobinopathyies in Southern Iranian Newborns

Introduction: Newborn screening is a systematic application of tests for early detection, diagnosis, and treatment of certain genetic or metabolic disorders that may lead to mortality and morbidity if untreated. As stated by WHO, each year over 330,000 babies are born worldwide with a severe form of hemoglobinopathy. Newborn screening for hemoglobinopathies could become one of the most important methods of decreasing mortality and morbidity and mitigating rising healthcare costs. The diversity and heterogeneous distribution of hemoglobin disorders make it necessary to develop strategies at the country level. Methods: Overall, 499 healthy full term Iranian neonates were screened for hemoglobinopathies who were originated from Fars province in southern part of Iran. The screening was performed on cord blood samples collected on EDTA. Following sample collection, complete blood cell count cell indices, osmotic fragility test and hemoglobin electrophoresis were performed. Results: Total prevalence of significant hematologic abnormal findings was 12.4% in this study, the most prevalent one was Alpha thalassemia (6.4%) followed by hereditary spherocytosis (4.8%), and sickle cell anemia (1.2%). The total analysis for detection of Alpha thalassemia by mean corpuscular volume (MCV) ≤ 94, mean corpuscular hemoglobin (MCH) ≤ 27, and hemoglobin level ≤ 14 indicated failure and these results were not appropriate to this discrete population. Conclusion: We suggested the new cut off points for neonatal screening programs of the Iranian population be MCV≤96 and MCH ≤31 for Alpha thalassemia. A successful disease prevention strategy could lead to significant savings in spiraling healthcare costs and mitigate the scarcity of blood products. The healthcare budget savings realized from preventive screening justifies the spending on such a national thalassemia program. We recommended a neonatal screening program for southern Iranian population and also designed a new format for neonatal discharge summary.