Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

Anita Spehar Uroic; Dragan Milenkovic; Elisa De Franco; Ernest Bilic; Natasa Rojnic Putarek; Nevena Krnic

doi:10.1055/s-0040-1717136

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2022; 11(03): 236-239
DOI: 10.1055/s-0040-1717136

Case Report

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

Authors

Anita Spehar Uroic

¹Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia
Dragan Milenkovic

²Varnamo Hospital, Varnamo, Sweden
Elisa De Franco

³Molecular Genetics, University of Exeter Medical School, Exeter, United Kingdom
Ernest Bilic

⁴Department of Pediatrics, University Hospital Centre Zagreb, Medical School, University of Zagreb, Zagreb, Croatia
Natasa Rojnic Putarek

⁵Medical School, Juraj Dobrila Univeristy of Pula, Pula, Croatia
Nevena Krnic

⁴Department of Pediatrics, University Hospital Centre Zagreb, Medical School, University of Zagreb, Zagreb, Croatia

Abstract

Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense, c.373C > T; p.(Gln125Ter) and novel missense variant, c.1214C > G; p.(Thr405Arg) in SLC19A2 gene. The first was diagnosed at 4 months with diabetes mellitus and severe anemia requiring transfusions. As TRMA was suspected, thiamine therapy was immediately started to prevent further transfusions and insulin therapy. His brother developed extreme anemia at 3 weeks of age while waiting for the results of the genetic test. Severe anemia in this sibling may have been prevented if thiamine had been initiated earlier.

Keywords

thiamine-responsive megaloblastic anemia - neonatal diabetes mellitus - SLC19A2 gene

Full Text

References

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