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Determinants of iron status and bilirubin levels in congenital dyserythropoietic anaemia type I

Wickramasinghe, SN; Thein, SL; Srichairatanakool, S; Porter, JB; (1999) Determinants of iron status and bilirubin levels in congenital dyserythropoietic anaemia type I. BRIT J HAEMATOL , 107 (3) 522 - 525.

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Abstract

Seven untransfused patients with congenital dyserythropoietic anaemia type I were investigated to assess the determinants of both iron overload and serum bilirubin levels. The serum ferritin concentration was increased in all patients and non-transferrin-bound iron (NTBI) was increased in all but one patient. None of the patients showed the C282Y mutation in the hereditary haemochromatosis gene, HFE. One patient was homozygous for the H63D mutation in this gene. The data indicated that differences in the extent of iron overload were not mediated by co-inheritance of the C282Y mutation in the HFE gene but could largely be explained by differences in the severity of anaemia and ineffective erythropoiesis, and in the age of the patient. In one patient an unusually high plasma bilirubin level was associated with the variant A[TA](7)TAA configuration in the TATA box of the uridine diphosphate glucuronosyltransferase (UGT-1A) gene promoter, the mutation found in most patients with mild Gilbert's syndrome.

Type: Article
Title: Determinants of iron status and bilirubin levels in congenital dyserythropoietic anaemia type I
Keywords: congenital dyserythropoietic anaemia type I, serum ferritin, non-transferrin bound serum iron, HFE gene mutations, Gilbert's syndrome, HETEROZYGOUS BETA-THALASSEMIA, GILBERTS-SYNDROME, GLUCURONOSYLTRANSFERASE GENE, HEMOCHROMATOSIS, EXPRESSION, ANEMIA
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: http://discovery.ucl.ac.uk/id/eprint/91626
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