Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series
Reshma Roshan1, Masarat Mehboob2, Roman Latif3
1Department of Clinical Hematology, SKIMS, Srinagar, Jammu and Kashmir, India.
Abstract:
The present case series describes two male children of 5 months and 11 months old, having diabetes mellitus and megaloblastic anemia, but with no syndromic symptoms or organ involvement. The patient's clinical history prompted a targeted sequencing of the genes associated with monogenic diabetes. In first case, mutation in SLC19A2 gene (variant - c.391dupT [P.Tyr131leufs*8]), where a homozygous insertion of one base pair (bp) in exon 2 of SLC19A2 gene[c.391dupT] was found, resulted in shift of reading frame and termination of the protein chain downstream to codon 131 [p.Tyr131 LeufsTer8]. In the second case, of mutation in SLC19A2 gene (variant- c. 1002_1004del [p.Gly335del]), a homozygous deletion in exon 3 found. Both the patients were diagnosed with thiamine responsive megaloblastic anemia (TRMA). When patients present with diabetes mellitus, deafness, and megaloblastic anemia, the possibility of TRMA syndrome should be considered. This condition often responds to high-dose thiamine.
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