Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype.

Hematology (Amsterdam, Netherlands) - 1 Oct 2017

Capra Anna Paola, Ferro Elisa, Cannavò Laura, La Rosa Maria Angela, Zirilli Giuseppina

Abstract excerpt

OBJECTIVES: We report a case of a 7-year-old girl with severe hypochromic microcytic anemia, who was unresponsive to classical iron supplements. We suspected IRIDA, iron-refractory iron-deficiency anemia, a genetic iron metabolism disorder, caused by TMPRSS6 variations. TMPRSS6 encodes matriptase-2, a negative regulator of hepcidin, and its pathological variants are related to normal to high levels of hepcidin....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Anemia, Hypochromic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anemia, Iron-Deficiency

Share to Biomarkers

Share to Erythrocyte Indices

Share to Membrane Proteins

Share to Serine Endopeptidases

Share to Severity of Illness Index

Source

Identifiers

PMID: 28447549
DOI: 10.1080/10245332.2017.1317990

Genes

TMPRSS6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype.PMID 28447549Read ↗

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.Semantic proximity Read ↗

Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractorySemantic proximity Read ↗

The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment.Semantic proximity Read ↗

Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations.Semantic proximity Read ↗

Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene.Semantic proximity Read ↗

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)Semantic proximity Read ↗

Iron refractory iron deficiency anemia.Semantic proximity Read ↗

Novel Pathogenic Variants of TMPRSS6 Gene in a Girl with Iron Refractory Iron Deficiency Anemia (IRIDA)Semantic proximity Read ↗

The role of TMPRSS6 gene variants in iron-related hematological parameters in Turkish patients with iron deficiency anemia.Semantic proximity Read ↗

The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review.Semantic proximity Read ↗

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.Semantic proximity Read ↗

A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.