Article
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 - 1 May 2014
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
Abstract excerpt
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 these...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.