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Medline ® Abstracts for References 1-4

of 'Patient education: Hemochromatosis (hereditary iron overload) (Beyond the Basics)'

1
TI
Hemochromatosis: diagnosis and management.
AU
Bacon BR
SO
Gastroenterology. 2001;120(3):718.
 
HH should be distinguished from the other syndromes of iron overload. Many patients with HH have abnormal serum iron values before the development of any significant symptoms or clinical findings, and liver biopsy is less important in these patients. HFE mutation analysis has strengthened our ability to diagnose HH accurately and is useful in family studies. HFE mutations may play a contributory role in some patients with PCT, NASH, or chronic HCV. Generalized population screening for HH may someday become a reality and lead to the identification and treatment of more patients before they have tissue damage or increased morbidity. With the identification of the HFE gene, we are beginning to unravel many of the mysteries of both normal iron absorption and the disorder of iron metabolism found in patients with HH.
AD
Division of Gastroenterology and Hepatology, Saint Louis University School of Medicine, St. Louis, Missouri 63110-0250, USA. baconbr@slu.edu
PMID
2
TI
Molecular medicine and hemochromatosis: at the crossroads.
AU
Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH
SO
Gastroenterology. 1999;116(1):193.
 
AD
Department of Internal Medicine, Saint Louis University School of Medicine, St. Louis, Missouri, USA.
PMID
3
TI
Management of hemochromatosis. Hemochromatosis Management Working Group.
AU
Barton JC, McDonnell SM, Adams PC, Brissot P, Powell LW, Edwards CQ, Cook JD, Kowdley KV
SO
Ann Intern Med. 1998;129(11):932.
 
The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management. Therapeutic phlebotomy is used to remove excess iron and maintain low normal body iron stores, and it should be initiated in men with serum ferritin levels of 300 microg/L or more and in women with serum ferritin levels of 200 microg/L or more, regardless of the presence or absence of symptoms. Typically, therapeutic phlebotomy consists of 1) removal of 1 unit (450 to 500 mL) of blood weekly until the serum ferritin level is 10 to 20 microg/L and 2) maintenance of the serum ferritin level at 50 microg/L or less thereafter by periodic removal of blood. Hyperferritinemia attributable to iron overload is resolved by therapeutic phlebotomy. When applied before iron overload becomes severe, this treatment also prevents complications of iron overload, including hepatic cirrhosis, primary liver cancer, diabetes mellitus, hypogonadotrophic hypogonadism, joint disease, and cardiomyopathy. In patients with established iron overload disease, weakness, fatigue, increased hepatic enzyme concentrations, right upper quadrant pain, and hyperpigmentation are often substantially alleviated by therapeutic phlebotomy. Patients with liver disease, joint disease, diabetes mellitus and other endocrinopathic abnormalities, and cardiac abnormalities often require additional, specific management.Dietary management of hemochromatosis includes avoidance of medicinal iron, mineral supplements, excess vitamin C, and uncooked seafoods. This can reduce the rate of iron reaccumulation; reduce retention of nonferrous metals; and help reduce complications of liver disease, diabetes mellitus, and Vibrio infection. This comprehensive approach to the management of hemochromatosis can decrease the frequency and severity of iron overload, improve quality of life, and increase longevity.
AD
Southern Iron Overload Disorders Center, Birmingham, Alabama 35209, USA. ironmd@mem.po.com
PMID
4
TI
Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.
AU
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS, American Association for the Study of Liver Diseases
SO
Hepatology. 2011;54(1):328.
 
AD
Division of Gastroenterology and Hepatology, Saint Louis University School of Medicine, Saint Louis, MO 63110-0250, USA. baconbr@slu.edu
PMID