Iron status in patients with pyruvate kinase deficiency: Neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios

British Journal of Haematology

Volumn 165, Issue 4, 2014, Pages 556-563

  Mojzikova, Renata ^a   Koralkova, Pavla ^a   Holub, Dusan ^a   Zidova, Zuzana ^a   Pospisilova, Dagmar ^a   Cermak, Jaroslav ^b   Striezencova Laluhova, Zuzana ^c   Indrak, Karel ^a   Sukova, Martina ^d   Partschova, Martina ^a   Kucerova, Jana ^a   Horvathova, Monika ^a   Divoky, Vladimir ^a  

^a PALACKÝ UNIVERSITY   (Czech Republic)

^b INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^c Children's Faculty Hospital   (Slovakia)

^d UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

Ferritin; Hepcidin; Iron overload; Pyruvate kinase deficiency; Red blood cell

Indexed keywords

BONE MORPHOGENETIC PROTEIN 15; FERRITIN; HEPCIDIN;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME REGULATION; ERYTHROID CELL; ERYTHROPOIESIS; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HYPERFERRITINEMIA; IRON INTAKE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PKLR GENE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; PROTEIN MODIFICATION; PROTEIN SYNTHESIS; PYRUVATE KINASE DEFICIENCY; SCHOOL CHILD;

FERRITIN; HEPCIDIN; IRON OVERLOAD; PYRUVATE KINASE DEFICIENCY; RED BLOOD CELL;

ADULT; AMINO ACID SEQUENCE; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; BLOOD TRANSFUSION; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ERYTHROPOIESIS; FEMALE; FERRITINS; HEPCIDINS; HUMANS; INFANT; INFANT, NEWBORN; IRON; IRON OVERLOAD; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PYRUVATE KINASE; PYRUVATE METABOLISM, INBORN ERRORS; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84899478079     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12779     Document Type: Article

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