Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia

European Journal of Haematology

Volumn 83, Issue 6, 2009, Pages 595-602

  Tchou, Isabelle ^a   Diepold, Myriam ^b   Pilotto, Pierre Antonio ^a   Swinkels, Dorine ^c   Neerman Arbez, Marguerite ^d   Beris, Photis ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

Hepcidin; Iron metabolism; Iron refractory iron deficiency anaemia; Matriptase2; RNA splicing; TMPRSS6

Indexed keywords

AMINO ACID; C REACTIVE PROTEIN; FERRIC HYDROXIDE SUCROSE; FERRITIN; FRESH FROZEN PLASMA; HEMOGLOBIN; HEPCIDIN; IRON; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; MATRIPTASE; MATRIPTASE 2; MEGALIN; NUCLEOTIDE; RNA; TRANSFERRIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD CELL COUNT; BLOOD SAMPLING; BONE MARROW BIOPSY; CASE REPORT; CHILD; CONTROLLED STUDY; DNA FLANKING REGION; ERYTHROBLAST; ERYTHROCYTE COUNT; EXON; FERRITIN BLOOD LEVEL; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; HEMOGLOBIN BLOOD LEVEL; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; INTRON; IRON BLOOD LEVEL; IRON DEFICIENCY ANEMIA; IRON METABOLISM; KARYOTYPE; MACROPHAGE; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETICULOCYTE COUNT; RNA SPLICING; TRANSFERRIN BLOOD LEVEL;

AMINO ACID SEQUENCE; ANEMIA, IRON-DEFICIENCY; ANTIMICROBIAL CATIONIC PEPTIDES; C-REACTIVE PROTEIN; CONSANGUINITY; CONSENSUS SEQUENCE; DIAGNOSTIC ERRORS; DRUG RESISTANCE; ERYTHROCYTE INDICES; EXONS; HUMANS; INFANT; INTRONS; IRON; ITALY; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES; SEQUENCE DELETION; SERINE ENDOPEPTIDASES; SWITZERLAND; THALASSEMIA;

EID: 70449467280     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2009.01340.x     Document Type: Article

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