Evaluating the Challenges and Opportunities of Screening for Alpha Thalassemia Within the Beta Thalassemia Screening Program in the Islamic Republic of Iran

Abstract

Background: Thalassemia screening instructions in Iran consider couples with MCV = 75-80, MCH = 26-27, HbA2<3.5, and HbF<3 indices as low-risk couples, and therefore further genetic testing is not obligatory. If the blood indices of alpha thalassemia carriers (One alpha gene deletion or two alpha gene deletions) fall within the parameters of low-risk couples, the identification of such couples within the beta thalassemia screening program will not be feasible. However, if the blood indicators of alpha thalassemia carriers fall within the range of the suspected high-risk couple, these couples can be identified through beta thalassemia screening instructions. Methods: In this cross-sectional study, information was extracted from 2359 individuals diagnosed with alpha thalassemia, identified between 2018 and 2021, in 22 marriage counseling centers in Isfahan province using the results of the PND test. The blood indices MCV and MCH of alpha thalassemia carriers were compared with the low-risk and high-risk values of beta thalassemia carrier couples. Findings: The average MCH and MCV of couples affected by alpha thalassemia gene deletions 1 and 2 are respectively within the low-risk and high-risk ranges for beta-thalassemia. Conclusion: Beta thalassemia screening guidelines can effectively identify individuals with two alpha thalassemia gene deletions, although they have no effect in identifying those with one alpha gene deletion. Current guidelines indicate that it is possible to prevent the occurrence and complications of pregnancy in mothers with Bart's hemoglobin infants; however, the identification of H hemoglobin disease remains unfeasible. © 2025 Isfahan University of Medical Sciences(IUMS). All rights reserved.