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Thiamine-responsive megaloblastic anemia syndrome
Ali Bay1, Mehmet Keskin, Samil Hizli
1Department of Pediatrics, Division of Pediatric Hematology, Gaziantep University, Gaziantep, Turkey. abay1968@yahoo.com
International Journal of Hematology
|September 14, 2010
Summary
Thiamine-responsive megaloblastic anemia (TRMA) is a rare genetic disorder. Early diagnosis in infants with anemia is crucial, especially in populations with frequent consanguinity.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Background:
- Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare genetic disorder.
- It is characterized by megaloblastic anemia, diabetes mellitus, and deafness.
- TRMA is caused by mutations in the SLC19A2 gene, which encodes a thiamine transporter protein.
Observation:
- This case report details a 5-month-old boy diagnosed with TRMA.
- The patient presented with anemia and thrombocytopenia.
- TRMA onset typically occurs in infancy or early childhood.
Findings:
- Mutations in SLC19A2 are the underlying cause of TRMA.
- TRMA is often observed in infants from consanguineous families.
- The diagnosis requires consideration of megaloblastic anemia, particularly in specific populations.
Implications:
- Early diagnosis of TRMA is essential for timely intervention.
- Genetic counseling may be beneficial for families with a history of TRMA.
- This case highlights the importance of considering TRMA in the differential diagnosis of unexplained anemia in infants.
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