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Elucidating the spectrum of -thalassemia mutations in Iran

^* Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
^° DNA Diagnostic & Research Lab, KK Women’s and Children Hospital, Singapore
^# Iranian Blood Transfusion Organization (IBTO), Research Center, Iran;
^@ Amirkola Thalassemia Center, Babol University of Medical Science, Babol, Iran
^{^} ViennaLab Diagnostics GmbH, Vienna, Austria

Correspondence: Hossein Najmabadi, Professor of Genetics, Kariminejad-Najmabadi Pathology & Genetics Center, 14665/154, Tehran, Iran. Phone: international +98.21.88363952. E-mail: hnajm{at}mavara.com

thalassemia (-thal) is one of the most common hemoglobin (Hb) disorders in the world.¹ -globin genes are located on chromosome 16. The majority of -thal mutations are deletions but point mutations are found as well.² Since the Iranian population is a mixture of different ethnic groups, frequency and distribution of -globin mutations in various regions of the country need to be clarified. These findings can contribute to a wider understanding of this disorder.

Key words: thalassemia, mutation, Iran.