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

doi:10.1136/bcr-2017-222700

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Article

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

BMJ case reports - 4 Jan 2018

Al Qasem Mohammed Abdullah, Hanna Fayez, Vithanarachchi Usira S, Khalafallah Alhossain A

Abstract excerpt

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...

Topics

Female
Hematinics
Hemochromatosis
Hemochromatosis Protein
Humans
Mutation
Young Adult
alpha-Thalassemia

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Identifiers

PMID: 29301806
DOI: 10.1136/bcr-2017-222700
PMCID: PMC5786954

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