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?

Answer from: at Academic Institution

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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at Beth Israel Deaconess Medical Center
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Do you routinely genotype adult beta thalassemia patients?

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