Liver biopsy in a patient with cirrhosis demonstrates markedly increased iron stores. The patient has no known history of hemolytic anemia or other potential causes of a secondary increase in hepatic iron stores. This patient’s primary disorder is most strongly associated with which of the following HLA alleles?

Correct Answer: HLA-A3
Description: The disease is primary hemochromatosis, in which abnormal iron accumulation occurs in many different organs. The liver may become cirrhotic, and the patient may become diabetic due to pancreatic damage. Hea failure may occur due to myocardial dysfunction, and the skin can take on a bronze discoloration. In fact, the old term for hemochromatosis was "bronze diabetes." Primary hemochromatosis is associated with the HLA-A3 allele. HLA-B27 is associated with psoriasis, ankylosing spondylitis, inflammatory bowel disease, and Reiter's syndrome. HLA-DR2, together with HLA-DR3, is associated with systemic lupus erythematosus. HLA-DR3 is additionally associated with Sjogren's syndrome, chronic active hepatitis, and type 1 diabetes mellitus . Ref: Bacon B.R. (2012). Chapter 309. Genetic, Metabolic, and Infiltrative Diseases Affecting the Liver. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e.
Category: Medicine
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