Document Type

Theses, Masters


Available under a Creative Commons Attribution Non-Commercial Share Alike 4.0 International Licence

Publication Details

Ddissertation submitted in partial fulfilment of the requirements for the School of Physics, Clinical and Optometric Sciences. Technological University Dublin, Kevin Street for the degree of MPhil. 2016.


Background: The European Association for the Study of the Liver (EASL) Guidelines for Hereditary Haemochromatosis (HH) refer specifically to symptomatic Homozygous C282Y patients and provide an algorithm for treating such patients who are predisposed to iron overloading. The British Society of Echocardiography does not make provisions for HH patients per se. Cardiac failure is a known complication of severe iron overload although it is atypical. Aim: To retrospectively investigate if an echocardiogram (echo) was warranted in the HH population at Louth County Hospital (LCH) Venesection Clinic based on the current guidelines. Methods: A cohort of 833 HH patients was reviewed with respect to: Hyperferritinemia (HFE) genotype, echo results, serum ferritin levels, transferrin saturations, patient gender, age at HH diagnosis and co-morbidities. Results: From the cohort investigated, 553 of 833 patients (66 percent) had echoes performed. When reviewing all echo results for these patients (553), 87 percent (480) recorded normal echoes. Consolidating all echoes performed where Serum Ferritin Level data was present (548) and then targeting patients with no co-morbidities only (345), the LCH Venesection Clinic data analysis demonstrates that 92 percent of this cohort’s echoes (319) show normal results. Conclusion: The results proved the thesis hypothesis was valid and a recommendation that the number of patients receiving echoes for Hereditary Haemochromatosis should be reviewed and local policy changed to reflect a lower frequency rate for echoes required, thereby reducing the backlog waiting list.