NDLI: Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy

Content Provider	PubMed Central
Author	Khuong-quang, Dong-anh Jeremy, Schwartzentruber Westerman, Mark Lepage, Pierre Finberg, Karin E. Majewski, Jacek Nada, Jabado
Copyright Year	2013
Abstract	Iron-refractory iron-deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in TMPRSS6. Patients have hypochromic microcytic anemia refractory to oral iron and are only partially responsive to parenteral iron administration. We report a French-Canadian kindred in which 2 siblings presented in early childhood with severe microcytic anemia, hypoferremia, and hyperferritinemia. Both children have been successfully treated solely with low-dose oral iron since diagnosis. Clinical and biological presentation did not fit any previously described genetic iron-deficiency anemia. Whole exome sequencing identified in both patients compound heterozygous mutations of TMPRSS6 leading to p.G442R and p.E522K, 2 mutations previously reported to cause classic IRIDA, and no additional mutations in known iron-regulatory genes. Thus, the phenotype associated with the unique combination of mutations uncovered in both patients expands the spectrum of disease associated with TMPRSS6 mutations to include iron deficiency anemia that is accompanied by hyperferritinemia at initial presentation and is responsive to continued oral iron therapy. Our results have implications for genetic testing in early childhood iron deficiency anemia. Importantly, they emphasize that whole exome sequencing can be used as a diagnostic tool and greatly facilitate the elucidation of the genetic basis of unusual clinical presentations, including hypomorphic mutations or compound heterozygosity leading to different phenotypes in known Mendelian diseases.
Related Links	http://dx.doi.org/10.1542/peds.2012-1303
Starting Page	620
File Format	PDF
ISSN	00314005
e-ISSN	10984275
Journal	Pediatrics
Issue Number	2
Volume Number	131
Language	English
Publisher	American Academy of Pediatrics
Publisher Date	2013-02-01
Access Restriction	Open
Rights Holder	American Academy of Pediatrics
Subject Keyword	Pediatrics, Perinatology, and Child Health Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Pediatrics, Perinatology and Child Health

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