1.
Clin Lab Haematol
; 28(5): 357-9, 2006 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16999731
RESUMO
A 30-year-old woman was found to have hyperferritinaemia after presenting with menorrhagia and lethargy. Serum iron studies did not confirm iron overload. Further investigations revealed two distinct genetic mutations of iron haemostasis--homozygosity for C282Y mutation of the HFE gene on chromosome 6 and heterozygosity for A40G mutation in the iron response element of ferritin light chain on chromosome 19. These mutations are responsible for the diseases hereditary haemochromatosis (autosomal recessive) and hereditary hyperferritinaemia-cataract syndrome (autosomal dominant) respectively. This is the first description of such a patient.
Assuntos
Catarata/genética , Ferritinas/genética , Hemocromatose/genética , Distúrbios do Metabolismo do Ferro/genética , Adulto , Apoferritinas , Feminino , Ferritinas/sangue , Ferritinas/química , Hemocromatose/sangue , Proteína da Hemocromatose , Heterozigoto , Antígenos de Histocompatibilidade Classe I/genética , Homozigoto , Humanos , Distúrbios do Metabolismo do Ferro/sangue , Distúrbios do Metabolismo do Ferro/complicações , Proteínas de Membrana/genética , Mutação Puntual/genética , Síndrome
2.
Br J Haematol
; 125(3): 266, 2004 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15086408