Clinical to Molecular Screening Paradigm for β-Thalassemia Carriers. (August 2015)

• Record Type: Journal Article
• Authors: Abdel-Messih, Ibrahim Y.; Youssef, Soha R.; Mokhtar, Galila M.; Elmogy, Mahira I.; Mahmoud, Hanan M.; Ayoub, Mariz; Pessar, Shaimaa A.
• Is Part Of: Hemoglobin. Volume 39:Number 4(2015)
• Page Start: 240
• Page End: 246
• Publication Date: 2015-08
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>β-Thalassemia (β-thal) represents a major health problem worldwide and particularly in Egypt. Its prevention, compared to treatment, is cost-effective, possible and practical. In this study we evaluate a proposed paradigm for detection of the β-thal carrier state. The present study included 1627 children and adolescents of both sexes, presenting as outpatients to clinics of Ain-Shams University Hospitals, Cairo, Egypt, from November 1 2009 to June 30 2010. In the first phase, after performing a complete blood count (CBC), 280 microcytic hypochromic patients were selected. These cases were further analyzed by iron profile and high performance liquid chromatography (HPLC); in the second phase, hybridization detected 22 common β-globin mutations in 74.0% of the suspected cases. Thus, by HPLC, the Hb A₂ level of &gt;3.5% provided 100.0% sensitivity, 70.0% specificity, 75.0% positive predictive value (PPV), 100.0% negative predictive value (NPV) and accuracy of 70.0% to identify β-thal trait and at a cut-off of 4.0%, it provided 97.4% sensitivity, 72.7% specificity, 92.6% PPV, 88.8% NPV and a diagnostic accuracy of 92%. High performance liquid chromatography is a reliable and cost effective primary screening tool for β-thal trait at a Hb A₂ level of ≥4.0%, while molecular testing is mandatory only for selected cases with borderline Hb A₂ values between 3.5 and 4.0%.</p> </abstract>