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Do you routinely genotype adult beta thalassemia patients?

No data from childhood. Do you consider it more strongly in patients who are transfusion dependent, or meet criteria for being transfusion dependent but are not currently on transfusion therapy?
2 Answers
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Hematology · University of Maryland
Answered on

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.

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Mednet Member
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Pediatric Hematology/Oncology · Weill Cornell Medical College
Answered on

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...

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