Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl with Novel TMPRSS6 Gene Variants: A Case Report and Review Literature
1
Issued Date
2023-01-01
Resource Type
ISSN
10774114
eISSN
15363678
Scopus ID
2-s2.0-85145641635
Pubmed ID
36598965
Journal Title
Journal of Pediatric Hematology/Oncology
Volume
45
Issue
1
Start Page
E109
End Page
E118
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Pediatric Hematology/Oncology Vol.45 No.1 (2023) , E109-E118
Suggested Citation
Udomponglukkana R., Sasanakul W., Tangbubpha N., Chuansumrit A., Tim-Aroon T., Pongphitcha P., Sirachainan N. Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl with Novel TMPRSS6 Gene Variants: A Case Report and Review Literature. Journal of Pediatric Hematology/Oncology Vol.45 No.1 (2023) , E109-E118. E118. doi:10.1097/MPH.0000000000002573 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/82616
Title
Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl with Novel TMPRSS6 Gene Variants: A Case Report and Review Literature
Author's Affiliation
Other Contributor(s)
Abstract
Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in the TMPRSS6 gene, which impair iron homeostasis. We reported a 4-year-old girl who presented with a 1-year history of iron deficiency anemia. Her hemoglobin level increased from 6.5 g/dL to 12.6 g/dL with a prolonged duration of therapeutic dose oral iron therapy (5 mg/kg/d), and the level remained quite stable during the therapy. Genetic analysis of the TMPRSS6 gene revealed compound heterozygotes of 2 novel pathogenic variants: c.811C> T (NM_153609.3) in exon 7 (NP_705837: p.R271Ter) and c.1254C> G in exon 11 (p.Y418Ter). The results highlight the significance of genetic investigation and long-term iron therapy in iron-refractory iron deficiency anemia patients.