Laboratory diagnosis for thalassemia intermedia: Are we there yet?

Journal of Clinical Laboratory Analysis
Saqib AnsariTahir Shamsi

Abstract

Differentiation between thalassemia major and thalassemia intermedia at presentation is not uniformly characterized, for which an absolute criteria needs to be developed. This study investigated the primary and secondary genetic modifiers to develop a laboratory finding by forming different genetic mutational combinations seen among thalassemia intermedia patients and comparing them with thalassemia major. This cross-sectional study analyzed 315 thalassemia intermedia patients. One hundred and five thalassemia major patients were recruited on the basis of documented evidence of diagnosis and were receiving blood transfusion therapy regularly. Various mutational combinations were identified, and comparison was performed between thalassemia intermedia and major using statistical software STATA 11.1. The mean age of the total population was 5.9 ± 5.32 years of which 165 (52%) were males. Of the two groups (thalassemia intermedia and thalassemia major), IVSI-5, IVSI-1, and Fr 8-9 were more prevalent among the thalassemia intermedia cohort. When comparison was performed between the thalassemia intermedia and thalassemia major patients, it showed significant results for the presence of Xmn-1 polymorphism. The presence of IVSI-5 homoz...Continue Reading

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Citations

May 16, 2020·International Journal of Laboratory Hematology·Pallavi MehtaMalay B Mukherjee
Mar 13, 2021·Journal of Pediatric Hematology/oncology·Saqib H AnsariTahir S Shamsi

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