Dyserythropoiesis and myelodysplasia in thiamine‐responsive megaloblastic anemia syndrome

Abstract

The case of thiamine‐responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow‐up, and regulated treatment plan for the patients. Complications and systemic manifestations are likely to enhance in otherwise circumstances.

Thiamine responsive megaloblastic anaemia complicated with acute Parvovirus infection: a case report

“…Bone marrow aspirate and biopsy of these patients showed moderate dysplastic changes in all three lineages. 7 Our patient also had moderate to severe dysplastic changes in the myeloid, erythroid and megakaryocytic lineages. There was a paucity of erythroid lineage with only proerythroblasts and dysplastic erythroid cells due to parvovirus infection.…”

“…This finding further supports the fact that thiamine plays a significant role in haemopoiesis most likely at the stem cell level. 7 For diabetes mellitus the patient was started on Insulin. His follow-up visits did show a remarkable improvement in the blood sugar levels.…”

Atypical presentation of thiamine‐responsive megaloblastic anemia in a Chinese baby boy

“…3 Megaloblastic anemia is the prominent clinical attribute of this syndrome, which developed as a result of impaired nucleic acid synthesis due to intracellular thiamine deficiency in erythropoietic cells. [4][5][6][7] However, this patient had an atypical presentation of megaloblastic anemia with normal MCV, and hypersegmented neutrophils were not found in the peripheral blood smear. Moreover, only a few megaloblastic erythrocytes were observed in the bone marrow smear, which may have been overlooked.…”

A challenging diagnosis for thiamine transporter deficiency anemia (Rogers syndrome) in two young siblings: A rare case report

“…The clinical symptoms of TRMA are caused by a mutation in the SLC19A2 gene, which is found on the long arm of chromosome 1q23.3. Mutation results in dysfunctional shorter thiamine transporter that disrupts the transportation of thiamine into the cell 4 . Thiamine‐responsive megaloblastic anemia is an autosomal recessive disease that occurs more frequently in consanguineous marriages.…”