A Basic Screening Test for Hereditary Hemochromatosis
Journal Title: Journal of Blood Disorders & Transfusion - Year 2018, Vol 9, Issue 3
Abstract
Hereditary Hemochromatosis (HH) is a multiorgan disease defined as systemic iron overload, as a result of a reduction in the serum concentration of the hormone hepcidin which causes increased activity of ferroportin, the only identified cellular iron exporter [1]. This results in increased iron absorption from the diet and raised plasma iron levels leading to cellular iron accumulation in hepatocytes, cardiomyocytes and pancreatic cells. Clinical symptoms of HH include fatigue, right upper quadrant abdominal pain, arthralgia, symptoms of heart failure and diabetes. Physical manifestations of the condition include hepatomegaly, congestive cardiac failure and skin pigmentation. These signs and symptoms cause considerable debilitating morbidity in patients. The sequelae of this disease process and treatment modalities (such as venesection and iron chelation therapy) add to the significant financial burden already on the National Health Service (NHS) dealing with patients with chronic illness. It is the most common single gene disorder in North European populations with a prevalence of approximately 1 per 220-250 individuals [2].
Authors and Affiliations
Maitra ISchool of Pharmacy and Biomedical Sciences, University of Central Lancashire, Preston PR1 2HE, UK, Date RS, Martin FL
Keywords
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