Natural history of C282Y homozygotes for hemochromatosis: PATIENTS AND METHODS Part 1

In: Hemochromatosis

22 May 2012

Patient population

HemochromatosisPatients were drawn from clinic records at a tertiary care centre specializing in hemochromatosis (n=261), as well as from a population screening study of blood donors (n= 16). Before the use of genetic testing, hemochromatosis was diagnosed in proband cases based on the clinical history, physical examination, transferrin saturation, serum ferritin concentrations and confirmatory liver biopsy. Stored blood samples made genetic testing possible many years after the original phenotypic diagnoses were made. Pedigree studies were undertaken in all families. All patients had European ancestry. Discovered cases were family members who were also found to be homozygous, originally by human leukocyte antigen (HLA) typing and subsequently by C282Y genotyping. A nonexpressing homozygote was considered to be a C282Y homozygote with a transferrin saturation of less than 55% and a ferritin concentration of less than 300 pg/L. Iron-loaded patients were treated with weekly 500 mL venesections until the serum ferritin concentration was approximately 50 pg/L. Patients with a rising serum ferritin concentration after iron depletion were treated with maintenance venesection therapy three to four times per year. There were five patients with concomitant alcohol abuse (more than 60 g/day) and one patient with hepatitis C. Comorbidities: Liver biopsies were classified as cirrhotic or noncirrhotic without knowledge of the clinical outcome of the patient. Cirrhosis was also determined at the time of autopsy in three cases. Patients were considered to be diabetic if they required insulin or oral hypoglycemic therapy. The presence of arthritis was established by history and physical examination. Heart disease was defined as symptomatic congestive heart failure (confirmed by clinical examination, chest x-ray, electrocardiogram and echocardiogram) and/or life-threatening arrhythmias. Follow-up status was determined by telephone interview with the patient and/or primary care physician. Dreaming of a reliable pharmacy that could give you an opportunity to buy any amounts of birth control pills with no prescription required and spend less money?


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