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Inherited haemochromatosis with C282Y mutation in a patient with alpha-thalassaemia: a treatment dilemma


Al Qasem, MA and Hanna, F and Vithanarachchi, US and Khalafallah, AA, Inherited haemochromatosis with C282Y mutation in a patient with alpha-thalassaemia: a treatment dilemma, BMJ Case Reports pp. 1-4. ISSN 1757-790X (2018) [Contribution to Refereed Journal]

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DOI: doi:10.1136/bcr-2017- 222700


A Caucasian 24-year-old female patient suffers from two hereditary disorders: alpha-thalassaemia, which is prevalent in Asia and rare in Europe, and haemochromatosis, which is prevalent among northern Europe and rare in Asia. The clinical presentation and management of one of these diseases is controversial for the other. She presented 5 years ago with a clinical picture of refractory iron-deficiency anaemia secondary to menorrhagia. On treating her with the standard iron therapy, her anaemia persists although with adquate iron stores. This prompted further investigations that revealed in addition to hereditary haemochromatosis, alpha-thalassaemia because of abnormal blood indices. The treatment of thalassaemia with either iron or blood transfusion is not advisable in haemochromatosis, while standard treatment of haemochromatosis with venesection will worsen the anaemia. As iron chelating agents were not approved in Australia for haemochromatosis, haematinics support was commenced with a satisfactory improvement of anaemia thus allowing for further venesection.

Item Details

Item Type:Contribution to Refereed Journal
Research Division:Biomedical and Clinical Sciences
Research Group:Cardiovascular medicine and haematology
Research Field:Haematology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Diagnosis of human diseases and conditions
UTAS Author:Al Qasem, MA (Mr Mohammed Al Qasem)
UTAS Author:Hanna, F (Dr Fayez Hanna)
UTAS Author:Khalafallah, AA (Professor Alhossain Khalafallah)
ID Code:125434
Year Published:2018
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-04-17
Last Modified:2018-04-17

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