• Natl Med J India · Sep 2023

    Case Reports

    Thiamine-responsive megaloblastic anaemia.

    • Vimal Mavila Veetil, Divya Pachat, K Nikitha, and Jesheera Mohammed Kutty.
    • Aster MIMS, Kozhikode, Kerala, India.
    • Natl Med J India. 2023 Sep 1; 36 (5): 314315314-315.

    AbstractWe report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic diabetes was considered. Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia. She was supplemented with thiamine, which dramatically improved her haemoglobin levels and glucose control. However, her vision could not be salvaged as the rod-cone dystrophy is a permanent damage.

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