How I manage patients with atypical microcytic anaemia

Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of theSLC11A2gene

(2012) Luigia De Falco et al.   BRITISH JOURNAL OF HAEMATOLOGY

Aceruloplasminemia

(2012) Satoshi Kono   CURRENT DRUG TARGETS

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

(2012) T. A. Rouault   Disease Models & Mechanisms

Erythropoietin-driven signaling ameliorates the survival defect of DMT1-mutant erythroid progenitors and erythroblasts

(2012) M. Horvathova et al.   HAEMATOLOGICA

TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia

(2012) Peng An et al.   HUMAN MOLECULAR GENETICS

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity

(2012) Flavia Guillem et al.   HUMAN MUTATION

Candidate Gene Sequencing of SLC11A2 and TMPRSS6 in a Family with Severe Anaemia: Common SNPs, Rare Haplotypes, No Causative Mutation

(2012) Anita Kloss-Brandstätter et al.   PLoS One

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

(2011) J. To-Figueras et al.   BLOOD

Hepcidin regulates ferroportin expression and intracellular iron homeostasis of erythroblasts

(2011) D.-L. Zhang et al.   BLOOD

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene

(2011) B. Grandchamp et al.   BLOOD

TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals

(2011) A. Nai et al.   BLOOD

Mutation of the gastric hydrogen-potassium ATPase alpha subunit causes iron-deficiency anemia in mice

(2011) L. Krieg et al.   BLOOD

Responsiveness to oral iron and ascorbic acid in a patient with IRIDA

(2011) Milena Cau et al.   BLOOD CELLS MOLECULES AND DISEASES

Gastrin-Deficient Mice Have Disturbed Hematopoiesis in Response to Iron Deficiency

(2011) Suzana Kovac et al.   ENDOCRINOLOGY

Serum hepcidin and prohepcidin concentrations in inflammatory bowel disease

(2011) Pantelis Oustamanolakis et al.   EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY

Response of iron overload to deferasirox in rare transfusion-dependent anaemias: equivalent effects on serum ferritin and labile plasma iron for haemolytic or production anaemias

(2011) John B. Porter et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice

(2011) T. B. Bartnikas et al.   HAEMATOLOGICA

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

(2011) G. Abbruzzese et al.   HAEMATOLOGICA

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

(2011) C. Kannengiesser et al.   HAEMATOLOGICA

Criteria for Early Identification of Aceruloplasminemia

(2011) Masaro Ogimoto et al.   INTERNAL MEDICINE

Growth differentiation factor 15 in patients with congenital dyserythropoietic anaemia (CDA) type II

(2011) Guillem Casanovas et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

(2011) M. D. Fleming   Hematology-American Society of Hematology Education Program

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA

(2010) Sandro Altamura et al.   BIOCHEMICAL JOURNAL

Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis

(2010) K. E. Finberg et al.   BLOOD

Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice

(2010) A. Nai et al.   BLOOD

Transferrin is a major determinant of hepcidin expression in hypotransferrinemic mice

(2010) T. B. Bartnikas et al.   BLOOD

Detection, evaluation, and management of iron-restricted erythropoiesis

(2010) L. T. Goodnough et al.   BLOOD

Genetic variability of TMPRSS6 and its association with iron deficiency anaemia

(2010) Paola Delbini et al.   BRITISH JOURNAL OF HAEMATOLOGY

Two to Tango: Regulation of Mammalian Iron Metabolism

(2010) Matthias W. Hentze et al.   CELL

Inherited disorders of iron metabolism

(2010) Clara Camaschella et al.   CURRENT OPINION IN PEDIATRICS

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)

(2010) Luigia De Falco et al.   HUMAN MUTATION

Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts

(2010) Hong Ye et al.   JOURNAL OF CLINICAL INVESTIGATION

Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders

(2010) Yoshibumi Kaneko et al.   JOURNAL OF GASTROENTEROLOGY

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

(2010) Armin Finkenstedt et al.   JOURNAL OF HEPATOLOGY

A genome-wide association analysis of serum iron concentrations

(2009) T. Tanaka et al.   BLOOD

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

(2009) L. Silvestri et al.   BLOOD

Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells

(2009) T. Tanno et al.   BLOOD

A Ferroportin Transcript that Lacks an Iron-Responsive Element Enables Duodenal and Erythroid Precursor Cells to Evade Translational Repression

(2009) De-Liang Zhang et al.   Cell Metabolism

Regulation of serum hepcidin levels in sickle cell disease

(2009) J. J.C. Kroot et al.   HAEMATOLOGICA

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

(2009) A. Iolascon et al.   HAEMATOLOGICA

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms

(2009) Andrew J. Ramsay et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

(2009) John C Chambers et al.   NATURE GENETICS

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

(2009) Santhi K Ganesh et al.   NATURE GENETICS

Common variants in TMPRSS6 are associated with iron status and erythrocyte volume

(2009) Beben Benyamin et al.   NATURE GENETICS

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

(2009) Duane L Guernsey et al.   NATURE GENETICS

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

The Microcytic Red Cell and the Anemia of Inflammation

(2009) Siobán B. Keel et al.   NEW ENGLAND JOURNAL OF MEDICINE

SEVERE HYPOCHROMIC MICROCYTIC ANEMIA IN A PATIENT WITH CONGENITAL ATRANSFERRINEMIA

(2009) Bibi Shahin Shamsian et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Pathogenesis and Management of Iron Deficiency Anemia: Emerging Role of Celiac Disease, Helicobacter pylori, and Autoimmune Gastritis

(2009) Chaim Hershko et al.   SEMINARS IN HEMATOLOGY

Iron-Refractory Iron Deficiency Anemia

(2009) Karin E. Finberg   SEMINARS IN HEMATOLOGY

Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I

(2008) H. Tamary et al.   BLOOD

Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis

(2008) A. R. Folgueras et al.   BLOOD

Forging a field: the golden age of iron biology

(2008) N. C. Andrews   BLOOD

Immunoassay for human serum hepcidin

(2008) T. Ganz et al.   BLOOD

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

(2008) F. Guillem et al.   BLOOD

Recent advances in the understanding of inherited sideroblastic anaemia

(2008) Clara Camaschella   BRITISH JOURNAL OF HAEMATOLOGY

The Serine Protease Matriptase-2 (TMPRSS6) Inhibits Hepcidin Activation by Cleaving Membrane Hemojuvelin

(2008) Laura Silvestri et al.   Cell Metabolism

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

(2008) M. A. Melis et al.   HAEMATOLOGICA

Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders

(2008) E. Angelucci et al.   HAEMATOLOGICA

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

(2008) Karin E Finberg et al.   NATURE GENETICS

The Serine Protease TMPRSS6 Is Required to Sense Iron Deficiency

(2008) X. Du et al.   SCIENCE

Natural History of Recessive Inheritance of DMT1 Mutations

(2007) A. Iolascon et al.   JOURNAL OF PEDIATRICS