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

Citation

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

Abstract

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:Medical and Health Sciences
Research Group:Cardiorespiratory Medicine and Haematology
Research Field:Haematology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Blood Disorders
Author:Al Qasem, MA (Mr Mohammed Al Qasem)
Author:Hanna, F (Dr Fayez Hanna)
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
Downloads:0

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