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

Summary Pyruvate kinase (PK) deficiency is an iron‐loading anaemia characterized by chronic haemolysis, ineffective erythropoiesis and a requirement for blood transfusion in most cases. We studied 11 patients from 10 unrelated families and found nine different disease‐causing PKLR mutations. Two of...

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Veröffentlicht in:	British journal of haematology 2014-05, Vol.165 (4), p.556-563
Hauptverfasser:	Mojzikova, Renata, Koralkova, Pavla, Holub, Dusan, Zidova, Zuzana, Pospisilova, Dagmar, Cermak, Jaroslav, Striezencova Laluhova, Zuzana, Indrak, Karel, Sukova, Martina, Partschova, Martina, Kucerova, Jana, Horvathova, Monika, Divoky, Vladimir
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Anemia, Hemolytic, Congenital Nonspherocytic - blood Anemia, Hemolytic, Congenital Nonspherocytic - genetics Anemias. Hemoglobinopathies Biological and medical sciences Child Child, Preschool Diseases of red blood cells DNA Mutational Analysis Erythropoiesis Female ferritin Ferritins - blood Hematologic and hematopoietic diseases hepcidin Hepcidins - biosynthesis Hepcidins - blood Humans Infant Infant, Newborn Iron - blood iron overload Iron Overload - genetics Male Medical sciences Middle Aged Molecular Sequence Data Mutation Pyruvate Kinase - blood Pyruvate Kinase - deficiency Pyruvate Kinase - genetics Pyruvate Metabolism, Inborn Errors - blood Pyruvate Metabolism, Inborn Errors - genetics red blood cell Sequence Analysis, DNA Transfusion Reaction Tumors Young Adult
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