Thiamine-responsive megaloblastic anaemia

We 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...

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Bibliographic Details
Published in:The National medical journal of India 2023-09, Vol.36, p.314-315, Article 314
Main Authors: VEETIL, VIMAL MAVILA, PACHAT, DIVYA, NIKITHA, K., KUTTY, JESHEERA MOHAMMED
Format: Article
Language:English
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Summary:We 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.
ISSN:0970-258X
2583-150X
DOI:10.25259/NMJI_20_21