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Article

Identification of new BMP6 pro-peptide mutations in patients with iron overload.

American journal of hematology - 1 Jun 2017

Piubelli Chiara, Castagna Annalisa, Marchi Giacomo, Rizzi Monica, Busti Fabiana, Badar Sadaf, Marchetti Monia, De Gobbi Marco, Roetto Antonella, Xumerle Luciano, Suku Eda, Giorgetti Alejandro, Delledonne Massimo, Olivieri Oliviero, Girelli Domenico

Abstract excerpt

Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least five different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. Nevertheless, patients with an HH-like phenotype that remains completely/partially unexplained despite extensive sequencing of known genes are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28335084
DOI: 10.1002/ajh.24730

Genes

BMP6
HFE
HAMP
HJV
TFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Identification of new BMP6 pro-peptide mutations in patients with iron overload.PMID 28335084Read ↗

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.Semantic proximity Read ↗

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Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.Semantic proximity Read ↗

Defective Bone Morphogenic Protein Signaling Underlies Hepcidin Deficiency in HFE Hereditary HemochromatosisSemantic proximity Read ↗

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

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TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.Semantic proximity Read ↗

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