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

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

J Pediatr Genet. 2020 Oct 8;11(3):236-239. doi: 10.1055/s-0040-1717136. eCollection 2022 Sep.

Authors

Anita Spehar Uroic¹, Dragan Milenkovic², Elisa De Franco³, Ernest Bilic⁴, Natasa Rojnic Putarek⁵, Nevena Krnic⁴

Affiliations

¹ Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
² Varnamo Hospital, Varnamo, Sweden.
³ Molecular Genetics, University of Exeter Medical School, Exeter, United Kingdom.
⁴ Department of Pediatrics, University Hospital Centre Zagreb, Medical School, University of Zagreb, Zagreb, Croatia.
⁵ Medical School, Juraj Dobrila Univeristy of Pula, Pula, 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: SLC19A2 gene; neonatal diabetes mellitus; thiamine-responsive megaloblastic anemia.

Publication types

Case Reports