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
Related Articles
- EP ID EP582810
- DOI -
- Views 126
- Downloads 0
Gaucher Disease Screening at a General Adult Haematology Referral, Single Tertiary Care Centre: A Prospective Study
Background: Gaucher Disease (GD) is the most common hereditary lysosomal storage disease whereglucocerebrosidase deficiency leads to glycolipid accumulation in macrophages. Given its non-specific symptoms,GD...
β-Thalassemia Caused by De novo Mutation in the β-globin Gene Identified in Two Bangladeshi Families
De novo mutations represent a unique example of how rare mode of inheritance of genetic variations caninfluence the onset of genetic diseases. Most of the mutations causing β- thalassemia in Bangladeshi p...
Myocardial Infarction caused by Triple-Hit Lymphoma
Triple Hit Lymphoma (THL) is an extremely rare and aggressive form of Non-Hodgkin’s lymphoma with morphologic, phenotypic and genetic features of both diffuse large B cell lymphoma (DLBCL) and Burkitt’s lymphoma (BL). It...
Newborn Screening for Sickle Cell Disease (SCD) in Awka South East Nigeria
Background: Sickle cell Diseases (SCD) is a genetic disorder. It is the most common genetic disorder affectingblack race worldwide. It carries a high mortality and morbidity when not promptly and properly managed. Earlyd...
Anesthetic Considerations of a Surgical Patient with Favism: A Case Report
Rationale: Favism is a genetic disease of Glucose 6 phosphatase dehydrogenase (G6PD) deficiency in humanred blood cells. It is mainly due to the mutation of G6PD gene encoded on the X chromosome, which leads to thedecrea...