Journal of Clinical Chemistry and Laboratory Medicine
Open Access

Department of Haematologist, Royal Prince Alfred Hospital, Camperdown NSW 2050, Australia

Publications

• Research   
  Clinical Outcomes and Management of Patients with Non-HFE Hyperferritinaemia: A Pilot Study
  Author(s): Alekya Middela, Arupam Raman, Sandhya Ramakrishna, Raj Ramakrishna*, William Alexander, Jose Cuenca, Vinay Kannakurti and A. Manoharan
  
  Background: Hyper ferritinaemia and dysfunctions in iron metabolism are common presentations encountered in clinical practice. Iron overload relates to the metabolism of iron absorption, transport and storage and can lead to significant end organ dysfunction. Iron overload has multiple causes including Hereditary Hemochromatosis (HH), which is a heterogeneous group of genetically inherited disorders of iron metabolism. There are several gene mutations responsible for the development of HH, of which, mutations in the Homeostatic Iron Regulator (HFE) gene are the most common, accounting for approximately 80% of cases. Approximately 20% of patients with HH have mutations in non-HFE genes, including genes that express hemojuvelin, hepcidin, transferrin receptor 2 and ferroportin, each of which have important functions in iron metabolism. Some examples of non-ge.. View More»
  DOI: 10.35248/JCCLM.22.5.251

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