Do you routinely genotype adult beta thalassemia patients?
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2 AnswersMednet Member
Hematology · University of Pittsburgh
Yes, this is recommended by the American College of Medical Genetics and Genomics and is helpful for prognosis and complications. I also test for alpha gene duplication or triplication if there is a mismatch between the beta thalassemia genotype and the phenotype.
Mednet Member
Pediatric Hematology/Oncology · Weill Cornell Medical College
Agree. In addition to prognosticating severity (likely more relevant in younger patients), it may have an implication for family planning as well. Given the increasing genetic diversity of the population, the alpha genetic status is also relevant here (including deletions), since one may not be cons...