Thiamine-responsive Megaloblastic Anemia Syndrome in a Mother and Five Daughters.
- Author:
Hwi Kyu IM
1
;
Jie Yeon LEE
;
Suk Won PARK
;
Hwang Min KIM
;
Young UH
;
Byung Il YEH
Author Information
1. Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea. khm9120@wonju.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
TRMA syndrome;
Thiamine;
Megaloblastic anemia;
SCL19A2 gene
- MeSH:
Anemia, Megaloblastic*;
Deafness;
Diabetes Mellitus;
Folic Acid;
Humans;
Korea;
Megaloblasts*;
Membranes;
Mothers*;
Nuclear Family*;
Thiamine;
Vitamin B 12
- From:Korean Journal of Pediatric Hematology-Oncology
2003;10(1):91-98
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an early-onset autosomal recessive disorder characterized by megaloblastic anemia with ringed sideroblasts, diabetes mellitus and progressive sensorineural deafness, all of which respond in varying degrees to the administration of thiamine, in pharmacologic doses. TRMA syndrome has been reported in less than 30 families, but has never been reported in Korea. It has been demonstrated recently that TRMA is consistently associated with a defect in thiamine transport across cellular membranes and with impaired intracellular pyrophosphorylation. The TRMA syndrome gene, SCL19A2, locates on chromosome 1q23.2-23.3, and encodes a high-affinity thiamine transporter protein. We recently experienced 6 cases of thiamine-responsive megaloblastic anemia syndrome in a family, including a mother and five daughters. All the six cases revealed megaloblastic anemia refractory to vitamin B12 and folic acid therapy but responded to thiamine. We report the cases with a brief review of the literature.
