Two Novel TMPRSS6 Variants in a Compound Heterozygous Child with Iron Refractory Iron Deficiency Anemia (IRIDA)

Jenna Allison, Luke Drury, James B. Ford

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a Caucasian family with asymptomatic, nonconsanguineous parents, and a daughter with unexplained microcytic anemia diagnosed on routine hemoglobin screening at her 12-month well child check. After failed response to oral and parental iron supplementation, iron refractory iron deficiency anemia was suspected. The family underwent genetic testing and the proband was found to be a compound heterozygote for 2 previously unreported TMPRSS6 variants.

Original languageEnglish (US)
JournalJournal of Pediatric Hematology/Oncology
DOIs
StateAccepted/In press - 2019

Keywords

  • IRIDA
  • TMPRSS6
  • hepcidin
  • iron refractory iron deficiency anemia
  • microcytic anemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Fingerprint

Dive into the research topics of 'Two Novel TMPRSS6 Variants in a Compound Heterozygous Child with Iron Refractory Iron Deficiency Anemia (IRIDA)'. Together they form a unique fingerprint.

Cite this