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Expert Pearls

Anemia (megaloblastic) - Vitamin B1

Vitamin B1 100 mg I.V. x 1 week, then 50 mg P.O. b.i.d. then 50 mg/d P.O. as maintenance dose eliminated the need for transfusions, normalized hemoglobin and platelets, and improved diabetic control in a child born with a thiamine transporter gene mutation. The case was an 18-year-old girl who was born deaf-mute, had diabetes at age 9 months and severe anemia at age 2 years who could only be treated with transfusions for 17 years. Eur J Endocrinol 2006 155 6 787-792 45096 6/2007 Summary Interview PubMed
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