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Hereditary Hemochromatosis Bill Cayley MD MDiv UW Health Augusta Family Medicine
Objectives <ul><li>Participants will be able to: </li></ul><ul><li>Describe hemochromatosis </li></ul><ul><li>Discuss eval...
Clinical Case <ul><li>45 year old man </li></ul><ul><ul><li>6 months of increasing fatigue & joint pains </li></ul></ul><u...
Clinical Case <ul><li>45 year old man </li></ul><ul><ul><li>Physical Examination </li></ul></ul><ul><ul><ul><li>Vitals nor...
Clinical Case <ul><li>45 year old man </li></ul><ul><ul><li>Labs: </li></ul></ul><ul><ul><ul><li>CBC, TSH, Chemistries nor...
Clinical Case <ul><li>45 year old man </li></ul><ul><ul><li>Test for Hereditary Hemochromatosis? </li></ul></ul>
Hemochromatosis Overview <ul><li>History </li></ul><ul><ul><li>Classic triad described in the 1865 by Trousseau </li></ul>...
Hemochromatosis Overview <ul><li>Genetics </li></ul><ul><ul><li>HFE gene mutation – identified 1996 </li></ul></ul><ul><ul...
Hemochromatosis Overview <ul><li>Onset ages 40-50 </li></ul><ul><ul><li>Fatigue </li></ul></ul><ul><ul><li>Arthralgias </l...
Iron Overload <ul><li>Primary  </li></ul><ul><ul><li>Hereditary hemochromatosis (HH) </li></ul></ul><ul><li>Secondary  </l...
Epidemiology <ul><li>Origin </li></ul><ul><ul><li>Ancient Celt or Viking? </li></ul></ul><ul><li>Clinical distribution </l...
Epidemiology <ul><li>Genetic distribution </li></ul><ul><ul><li>Most common single-gene mutation in US white population </...
Pathophysiology <ul><li>Iron </li></ul><ul><ul><li>Aerobic metabolism, free radical creation </li></ul></ul><ul><ul><li>Ad...
Pathophysiology <ul><li>Iron Balance </li></ul><ul><ul><li>1-2 mg of iron lost daily </li></ul></ul><ul><ul><ul><li>Sweat,...
Pathophysiology <ul><li>Hereditary Hemochromatosis </li></ul><ul><ul><li>Increased duodenal iron absorption  </li></ul></u...
Stages of Disease <ul><li>Genetic HH </li></ul><ul><ul><li>Abnormal Genotype </li></ul></ul><ul><li>Biochemical HH </li></...
Clinical HH <ul><li>Biochemical and Clinical Penetrance  </li></ul><ul><li>White Northern European ancestry </li></ul><ul>...
Clinical HH <ul><li>Of patients with clinical HH </li></ul><ul><ul><li>Homozygous C282Y 85-100% </li></ul></ul><ul><ul><li...
Clinical HH <ul><li>Gender </li></ul><ul><ul><li>Men </li></ul></ul><ul><ul><ul><li>Clinical disease rare before age 40 </...
Clinical HH <ul><li>Clinical factors: </li></ul><ul><ul><li>Dietary iron </li></ul></ul><ul><ul><li>Alcohol abuse </li></u...
HH: Signs & symptoms <ul><li>Reason for diagnosis </li></ul><ul><ul><li>Symptoms 35% </li></ul></ul><ul><ul><li>Abnormal l...
HH: Signs & symptoms <ul><li>Among patients with symptoms (58% of total) </li></ul><ul><ul><li>Symtoms </li></ul></ul><ul>...
Clinical manifestations Artwork is reproduced, with permission, from the Johns Hopkins Gastroenterology and Hepatology Res...
Clinical manifestations <ul><li>Liver </li></ul><ul><ul><li>Abnormal liver enzymes, hepatomegaly, or cirrhosis </li></ul><...
Diagnosis of HH <ul><li>Remember! </li></ul><ul><ul><li>Not all iron overload is hemochromatosis </li></ul></ul><ul><ul><l...
Biochemical & genetic testing <ul><li>Iron overload & homozygous C282Y </li></ul><ul><ul><li>Transferrin saturation (TfS) ...
Biochemical & genetic testing <ul><li>Liver biopsy </li></ul><ul><ul><li>Hepatic iron load, other liver disease? </li></ul...
Biochemical & genetic testing <ul><li>Imaging </li></ul><ul><ul><li>CT or MRI - investigational, not recommended as yet </...
Populations for evaluation <ul><li>Symptomatic patients </li></ul><ul><ul><li>Unexplained liver disease OR a presumably kn...
Populations for evaluation <ul><li>Asymptomatic patients </li></ul><ul><ul><li>Priority groups </li></ul></ul><ul><ul><ul>...
HH: Diagnostic algorithm Clinical suspicion Fasting TfS & Ferritin If Ferritin > 1000 OR  ALT/AST elevated do liver bx Gen...
Treatment <ul><li>Goals – iron depletion in order to: </li></ul><ul><ul><li>Prevent complications in patients with early i...
Phlebotomy Artwork is reproduced, with permission, from the Johns Hopkins Gastroenterology and Hepatology Resource Center,...
Phlebotomy <ul><li>Initial treatment </li></ul><ul><ul><li>Remove ½ to 2 units (250 – 1000 cc) of blood/week </li></ul></u...
Screening <ul><li>Pro: </li></ul><ul><ul><li>Common disorder </li></ul></ul><ul><ul><li>Long presymptomatic phase </li></u...
Screening <ul><li>Con: </li></ul><ul><ul><li>Natural history unknown </li></ul></ul><ul><ul><li>Significance of genetic mu...
Screening Recommendations <ul><li>AASLD </li></ul><ul><ul><li>Primary phenotypic screening of population with serum iron m...
Screening Recommendations <ul><li>ACP </li></ul><ul><ul><li>Since only 2 persons per million screened by  HFE  screening a...
Screening Recommendations <ul><li>USPSTF: </li></ul><ul><ul><li>Since screening could identify a large number of individua...
Summary <ul><li>Hereditary hemochromatosis is a disorder of iron overload due to absorption in excess of normal losses </l...
Resources <ul><li>Brandhagen DJ, Fairbanks VF, Baldus W. Recognition and management of hereditary hemochromatosis. Am Fam ...
Resources <ul><li>Schmitt B, Golub RM, Green R. Screening primary care patients for hereditary hemochromatosis with transf...
Resources <ul><li>U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern...
Resources <ul><li>Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and haemochromatosis: at the...
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Hemochromatosis1

  1. 1. Hereditary Hemochromatosis Bill Cayley MD MDiv UW Health Augusta Family Medicine
  2. 2. Objectives <ul><li>Participants will be able to: </li></ul><ul><li>Describe hemochromatosis </li></ul><ul><li>Discuss evaluation and management of hemochromatosis </li></ul><ul><li>Discuss screening for hemochromatosis </li></ul>
  3. 3. Clinical Case <ul><li>45 year old man </li></ul><ul><ul><li>6 months of increasing fatigue & joint pains </li></ul></ul><ul><ul><li>PMH, FH, SH unremarkable </li></ul></ul><ul><ul><li>ROS </li></ul></ul><ul><ul><ul><li>Reveals additional complaints of vague abdominal discomfort, and difficulties maintaining erections </li></ul></ul></ul>
  4. 4. Clinical Case <ul><li>45 year old man </li></ul><ul><ul><li>Physical Examination </li></ul></ul><ul><ul><ul><li>Vitals normal </li></ul></ul></ul><ul><ul><ul><li>HEENT normal </li></ul></ul></ul><ul><ul><ul><li>Cardiac Regular w/ no murmur </li></ul></ul></ul><ul><ul><ul><li>Lungs clear </li></ul></ul></ul><ul><ul><ul><li>Abdomen soft with no masses </li></ul></ul></ul><ul><ul><ul><li>Extremities unremarkable </li></ul></ul></ul><ul><ul><ul><li>Skin normal color and normal turgor </li></ul></ul></ul>
  5. 5. Clinical Case <ul><li>45 year old man </li></ul><ul><ul><li>Labs: </li></ul></ul><ul><ul><ul><li>CBC, TSH, Chemistries normal </li></ul></ul></ul><ul><ul><ul><li>Hepatic transaminase levels abnormally elevated </li></ul></ul></ul>
  6. 6. Clinical Case <ul><li>45 year old man </li></ul><ul><ul><li>Test for Hereditary Hemochromatosis? </li></ul></ul>
  7. 7. Hemochromatosis Overview <ul><li>History </li></ul><ul><ul><li>Classic triad described in the 1865 by Trousseau </li></ul></ul><ul><ul><ul><li>Diabetes, bronze skin, cirrhosis </li></ul></ul></ul><ul><ul><li>Named “Hemochromatosis” in 1889 by Von Recklinghaussen </li></ul></ul><ul><ul><ul><li>Iron storage and widespread tissue injury </li></ul></ul></ul><ul><ul><li>Inheritance described in 1935 </li></ul></ul><ul><ul><li>HLA linkage to chromosome 6 identified 1976 </li></ul></ul>
  8. 8. Hemochromatosis Overview <ul><li>Genetics </li></ul><ul><ul><li>HFE gene mutation – identified 1996 </li></ul></ul><ul><ul><li>Autosomal recessive </li></ul></ul><ul><ul><li>C282Y or H63D </li></ul></ul>
  9. 9. Hemochromatosis Overview <ul><li>Onset ages 40-50 </li></ul><ul><ul><li>Fatigue </li></ul></ul><ul><ul><li>Arthralgias </li></ul></ul><ul><ul><li>Weight loss </li></ul></ul><ul><ul><li>Abdominal pain </li></ul></ul><ul><ul><li>Loss of libido </li></ul></ul>
  10. 10. Iron Overload <ul><li>Primary </li></ul><ul><ul><li>Hereditary hemochromatosis (HH) </li></ul></ul><ul><li>Secondary </li></ul><ul><ul><li>Thalassemia </li></ul></ul><ul><ul><li>Sideroblastic anemia </li></ul></ul><ul><ul><li>Porphyria cutanea tarda </li></ul></ul><ul><ul><li>Chronic liver disease </li></ul></ul><ul><ul><ul><li>Hepatitis C, hepatitis B, steatohepatitis (fatty liver), alcohol induced liver disease, previous porta-caval shunting </li></ul></ul></ul><ul><ul><li>Transfusions </li></ul></ul><ul><ul><li>Chronic iron supplementation </li></ul></ul><ul><li>Uncertain classification??? </li></ul><ul><ul><li>Non-HFE hemochromatosis </li></ul></ul>
  11. 11. Epidemiology <ul><li>Origin </li></ul><ul><ul><li>Ancient Celt or Viking? </li></ul></ul><ul><li>Clinical distribution </li></ul><ul><ul><li>No good data </li></ul></ul>
  12. 12. Epidemiology <ul><li>Genetic distribution </li></ul><ul><ul><li>Most common single-gene mutation in US white population </li></ul></ul><ul><ul><li>Heterozygous Hereditary Hemochromatosis </li></ul></ul><ul><ul><ul><li>White Northern Europeans 9.6% </li></ul></ul></ul><ul><ul><li>Homozygous Hereditary Hemochromatosis </li></ul></ul><ul><ul><ul><li>White Northern Europeans 0.4% </li></ul></ul></ul><ul><ul><ul><li>Mexican-Americans 0.027% </li></ul></ul></ul><ul><ul><ul><li>Non-hispanic blacks 0.014% </li></ul></ul></ul><ul><ul><ul><li>Asians 0% </li></ul></ul></ul><ul><ul><li>Non-HFE Hemochromatosis – non-Caucasian populations? </li></ul></ul>
  13. 13. Pathophysiology <ul><li>Iron </li></ul><ul><ul><li>Aerobic metabolism, free radical creation </li></ul></ul><ul><ul><li>Adults: 35 (F) to 45 (M) mg/kg total body iron </li></ul></ul><ul><ul><ul><li>Hemoglobin (60%) </li></ul></ul></ul><ul><ul><ul><li>Myoglobin (10%) </li></ul></ul></ul><ul><ul><ul><li>Enzymes & cytochromes (10%) </li></ul></ul></ul><ul><ul><ul><li>Transferrin (<1%) </li></ul></ul></ul>
  14. 14. Pathophysiology <ul><li>Iron Balance </li></ul><ul><ul><li>1-2 mg of iron lost daily </li></ul></ul><ul><ul><ul><li>Sweat, sloughed cells </li></ul></ul></ul><ul><ul><li>Loss offset by regulated duodenal absorption </li></ul></ul><ul><ul><li>Excess uptake cannot be offset, leads to overload </li></ul></ul>
  15. 15. Pathophysiology <ul><li>Hereditary Hemochromatosis </li></ul><ul><ul><li>Increased duodenal iron absorption </li></ul></ul><ul><ul><ul><li>DMT1 protein and ferroportin are inappropriately over-active </li></ul></ul></ul><ul><ul><ul><li>Iron accumulates in excess of daily losses </li></ul></ul></ul><ul><ul><ul><li>Clinical manifestations once total body iron = 15-40 grams </li></ul></ul></ul><ul><ul><li>C282Y mutation necessary but not sufficient for disease </li></ul></ul>
  16. 16. Stages of Disease <ul><li>Genetic HH </li></ul><ul><ul><li>Abnormal Genotype </li></ul></ul><ul><li>Biochemical HH </li></ul><ul><ul><li>Iron Overload </li></ul></ul><ul><li>Clinical HH </li></ul><ul><ul><li>Symptomatic Disease </li></ul></ul>
  17. 17. Clinical HH <ul><li>Biochemical and Clinical Penetrance </li></ul><ul><li>White Northern European ancestry </li></ul><ul><ul><li>10% heterozygous for C282Y </li></ul></ul><ul><ul><li>0.4% homozygous for C282Y </li></ul></ul><ul><ul><ul><li>60-75% will develop iron overload </li></ul></ul></ul><ul><ul><ul><li>2-5% may develop diabetes </li></ul></ul></ul><ul><ul><ul><li>Up to 30% of men & up to 7% of women may develop liver disease </li></ul></ul></ul>
  18. 18. Clinical HH <ul><li>Of patients with clinical HH </li></ul><ul><ul><li>Homozygous C282Y 85-100% </li></ul></ul><ul><ul><li>Compound heterozygous C282Y & H63D 10% </li></ul></ul><ul><li>No increased risk of disease </li></ul><ul><ul><li>Heterozygous C282Y </li></ul></ul><ul><ul><li>Homozygous for H63D </li></ul></ul>
  19. 19. Clinical HH <ul><li>Gender </li></ul><ul><ul><li>Men </li></ul></ul><ul><ul><ul><li>Clinical disease rare before age 40 </li></ul></ul></ul><ul><ul><ul><li>10-20 g iron by age 40 </li></ul></ul></ul><ul><ul><li>Women </li></ul></ul><ul><ul><ul><li>Clinical disease rare before menopause </li></ul></ul></ul><ul><ul><ul><li>Menstrual blood losses offset iron accumulation </li></ul></ul></ul>
  20. 20. Clinical HH <ul><li>Clinical factors: </li></ul><ul><ul><li>Dietary iron </li></ul></ul><ul><ul><li>Alcohol abuse </li></ul></ul><ul><ul><li>Hepatitis C </li></ul></ul>
  21. 21. HH: Signs & symptoms <ul><li>Reason for diagnosis </li></ul><ul><ul><li>Symptoms 35% </li></ul></ul><ul><ul><li>Abnormal lab test 45% </li></ul></ul><ul><ul><li>Family member with hemochromatosis 20% </li></ul></ul><ul><ul><li>Source: </li></ul></ul><ul><ul><ul><li>Survey of 3562 patients with hemochromatosis </li></ul></ul></ul><ul><ul><ul><li>Am J Med. 106:619 </li></ul></ul></ul>
  22. 22. HH: Signs & symptoms <ul><li>Among patients with symptoms (58% of total) </li></ul><ul><ul><li>Symtoms </li></ul></ul><ul><ul><ul><li>Fatigue 46% </li></ul></ul></ul><ul><ul><ul><li>Arthralgia 44% </li></ul></ul></ul><ul><ul><ul><li>Loss of libido 26% </li></ul></ul></ul><ul><ul><li>Diagnoses </li></ul></ul><ul><ul><ul><li>Arthritis 65% </li></ul></ul></ul><ul><ul><ul><li>Liver disease 52% </li></ul></ul></ul><ul><ul><li>Source: </li></ul></ul><ul><ul><ul><li>Survey of 3562 patients with hemochromatosis </li></ul></ul></ul><ul><ul><ul><li>Am J Med. 106:619 </li></ul></ul></ul>
  23. 23. Clinical manifestations Artwork is reproduced, with permission, from the Johns Hopkins Gastroenterology and Hepatology Resource Center, www.hopkins-gi.org, copyright 2006, Johns Hopkins University, all rights reserved.
  24. 24. Clinical manifestations <ul><li>Liver </li></ul><ul><ul><li>Abnormal liver enzymes, hepatomegaly, or cirrhosis </li></ul></ul><ul><ul><li>Cirrhosis accounts for 89% of HH related deaths </li></ul></ul><ul><ul><li>Hepatocellular carcinoma (30% of patients with cirrhosis) </li></ul></ul><ul><li>Cardiac </li></ul><ul><ul><li>Cardiomyopathy (dilated or dilated-restrictive) and heart failure </li></ul></ul><ul><ul><li>Conduction disturbances, decrease in QRS amplitude, T-wave flattening </li></ul></ul><ul><li>Endocrine </li></ul><ul><ul><li>Diabetes (iron accumulation in β-cells, impaired insulin sensitivity) </li></ul></ul><ul><ul><li>Hypogonadism (impotence, amenorrhea, loss of libido, or osteoporosis), due to iron accumulation in pituitary cells. </li></ul></ul><ul><li>Joints </li></ul><ul><ul><li>Non-inflammatory osteoarthritis (MCP and PIP joints) </li></ul></ul><ul><li>Skin </li></ul><ul><ul><li>“ Bronzing” due to melanin or iron deposition </li></ul></ul>
  25. 25. Diagnosis of HH <ul><li>Remember! </li></ul><ul><ul><li>Not all iron overload is hemochromatosis </li></ul></ul><ul><ul><li>Not all patients with C282Y have clinical disease or shortened life expectancy </li></ul></ul><ul><li>Diagnosis requires: </li></ul><ul><ul><li>Clinical suspicion </li></ul></ul><ul><ul><li>Biochemical testing </li></ul></ul><ul><ul><li>Genetic confirmation </li></ul></ul>
  26. 26. Biochemical & genetic testing <ul><li>Iron overload & homozygous C282Y </li></ul><ul><ul><li>Transferrin saturation (TfS) > 45% </li></ul></ul><ul><ul><ul><li>94% Sensitive, 94% Specific </li></ul></ul></ul><ul><ul><li>Ferritin ≥300μg/L </li></ul></ul><ul><ul><ul><li>50% Sensitive, 88% Specific </li></ul></ul></ul>
  27. 27. Biochemical & genetic testing <ul><li>Liver biopsy </li></ul><ul><ul><li>Hepatic iron load, other liver disease? </li></ul></ul><ul><ul><li>Now mainly used if genetic testing unavailable or non-diagnostic </li></ul></ul>
  28. 28. Biochemical & genetic testing <ul><li>Imaging </li></ul><ul><ul><li>CT or MRI - investigational, not recommended as yet </li></ul></ul><ul><li>Genetic confirmation </li></ul><ul><ul><li>C282Y and H63D mutation testing for all patients suspected of iron overload </li></ul></ul>
  29. 29. Populations for evaluation <ul><li>Symptomatic patients </li></ul><ul><ul><li>Unexplained liver disease OR a presumably known cause of liver disease with abnormality of one or more iron markers </li></ul></ul><ul><ul><li>Type 2 diabetes mellitus, esp. with hepatomegaly, elevated liver enzymes, atypical cardiac disease or early-onset sexual dysfunction </li></ul></ul><ul><ul><li>Early-onset atypical arthropathy, cardiac disease, and male sexual dysfunction </li></ul></ul><ul><ul><ul><li>American Association for the Study of Liver Diseases. Hepatology. 33:1321 </li></ul></ul></ul>
  30. 30. Populations for evaluation <ul><li>Asymptomatic patients </li></ul><ul><ul><li>Priority groups </li></ul></ul><ul><ul><ul><li>First-degree relatives of a confirmed case of hemochromatosis </li></ul></ul></ul><ul><ul><ul><li>Individuals with abnormal serum iron markers </li></ul></ul></ul><ul><ul><ul><li>Individuals with unexplained elevation of liver enzymes or asymptomatic hepatomegaly </li></ul></ul></ul><ul><ul><li>General population??? </li></ul></ul><ul><ul><ul><li>American Association for the Study of Liver Diseases. Hepatology. 33:1321 </li></ul></ul></ul>
  31. 31. HH: Diagnostic algorithm Clinical suspicion Fasting TfS & Ferritin If Ferritin > 1000 OR ALT/AST elevated do liver bx Genotype if TfS AND Ferritin elevated If Heterozygous evaluate for other liver dz If Homozygous C282Y/C282Y: Phlebotomy If TfS OR Ferritin elevated evaluate for other liver dz No further eval if normal Adapted from Am J Med 119:391 & Hepatology 33:1321
  32. 32. Treatment <ul><li>Goals – iron depletion in order to: </li></ul><ul><ul><li>Prevent complications in patients with early iron overload </li></ul></ul><ul><ul><li>Alleviate reversible consequences of HH if patients have clinical disease </li></ul></ul>
  33. 33. Phlebotomy Artwork is reproduced, with permission, from the Johns Hopkins Gastroenterology and Hepatology Resource Center, www.hopkins-gi.org, copyright 2006, Johns Hopkins University, all rights reserved
  34. 34. Phlebotomy <ul><li>Initial treatment </li></ul><ul><ul><li>Remove ½ to 2 units (250 – 1000 cc) of blood/week </li></ul></ul><ul><ul><li>Regimen depends on pt health and comorbidities </li></ul></ul><ul><ul><li>Labs: Hb each time, Ferritin every 10-12 phlebotomies </li></ul></ul><ul><ul><li>Endpoint: Ferritin < 50 mcg/L AND TfS < 50% </li></ul></ul><ul><li>Maintenance: </li></ul><ul><ul><li>Phlebotomy 3-4x/ year for men, 1-2x year for women </li></ul></ul><ul><ul><li>Goal – maintain Ferritin 25-50 mcg/L </li></ul></ul>
  35. 35. Screening <ul><li>Pro: </li></ul><ul><ul><li>Common disorder </li></ul></ul><ul><ul><li>Long presymptomatic phase </li></ul></ul><ul><ul><li>Inexpensive screening test </li></ul></ul><ul><ul><li>Effective treatment available </li></ul></ul><ul><ul><li>Treatment improves survival </li></ul></ul>
  36. 36. Screening <ul><li>Con: </li></ul><ul><ul><li>Natural history unknown </li></ul></ul><ul><ul><li>Significance of genetic mutation in absence of clinical manifestations unknown </li></ul></ul><ul><ul><li>Future burden of clinical disease among currently asymptomatic heterozygous and homozygous individuals is unknown </li></ul></ul>
  37. 37. Screening Recommendations <ul><li>AASLD </li></ul><ul><ul><li>Primary phenotypic screening of population with serum iron markers, secondary genetic evaluation if indicated. </li></ul></ul>
  38. 38. Screening Recommendations <ul><li>ACP </li></ul><ul><ul><li>Since only 2 persons per million screened by HFE screening and 3 per million screened by transferrin would be identified with cirrhosis, the benefit of early diagnosis is unclear. </li></ul></ul>
  39. 39. Screening Recommendations <ul><li>USPSTF: </li></ul><ul><ul><li>Since screening could identify a large number of individuals with the high-risk genotype, who may never manifest clinical disease, “the USPSTF concludes that the potential harms of genetic screening for hereditary hemochromatosis outweigh the potential benefits.” </li></ul></ul>
  40. 40. Summary <ul><li>Hereditary hemochromatosis is a disorder of iron overload due to absorption in excess of normal losses </li></ul><ul><li>Mutation of HFE Gene (C282Y or H63D) necessary but not sufficient for clinical disease </li></ul><ul><li>Diagnosis requires clinical suspicion, biochemical testing, and genetic confirmation </li></ul><ul><li>Phlebotomy reduces sequellae of clinical disease </li></ul><ul><li>Primary population screening for HH is controversial </li></ul>
  41. 41. Resources <ul><li>Brandhagen DJ, Fairbanks VF, Baldus W. Recognition and management of hereditary hemochromatosis. Am Fam Physician. 2002 Mar 1;65(5):853-60. PMID: 11898957 (http://www.aafp.org/afp/20020301/853.html, accessed 24 October 2006) </li></ul><ul><li>Limdi JK, Crampton JR. Hereditary haemochromatosis. QJM. 2004 Jun;97(6):315-24. PMID: 15152104 (http://qjmed.oxfordjournals.org/cgi/content/full/97/6/315, accessed 26 October 2006) </li></ul><ul><li>Qaseem A, Aronson M, Fitterman N, Snow V, Weiss KB, Owens DK; Clinical Efficacy Assessment Subcommittee of the American College of Physicians. Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians. Ann Intern Med. 2005 Oct 4;143(7):517-21. PMID: 16204164 (http://www.annals.org/cgi/content/full/143/7/517, accessed 26 October 2006) </li></ul>
  42. 42. Resources <ul><li>Schmitt B, Golub RM, Green R. Screening primary care patients for hereditary hemochromatosis with transferring saturation and serum ferritin level: systematic review for the American College of Physicians. Ann Intern Med. 2005 Oct 4;143(7):522-36. PMID: 16204165 (http://www.annals.org/cgi/reprint/143/7/522.pdf, accessed 12 March 2007) </li></ul><ul><li>Seamark CJ, Hutchinson M. Controversy in primary care: Should asymptomatic haemochromatosis be treated? BMJ. 2000 May 13;320(7245):1314-7. PMID: 10807626. (http://bmj.bmjjournals.com/cgi/content/full/320/7245/1314, accessed 12 March 2007) </li></ul><ul><li>Tavill AS; American Association for the Study of Liver Diseases; American College of Gastroenterology; American Gastroenterological Association. Diagnosis and management of hemochromatosis. Hepatology. 2001 May;33(5):1321-8. PMID: 11343262 (http://www3.interscience.wiley.com/cgi-bin/abstract/106597263/ABSTRACT, accessed accessed 12 March 2007) </li></ul>
  43. 43. Resources <ul><li>U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med. 2006 Aug 1;145(3):204-8. PMID: 16880462 (http://www.annals.org/cgi/content/abstract/145/3/204, accessed 12 March 2007) </li></ul><ul><li>Whitlock EP, Garlitz BA, Harris EL, Beil TL, Smith PR. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2006 Aug 1;145(3):209-23. PMID: 16880463 (http://www.annals.org/cgi/content/full/145/3/209, accessed 12 March 2007) </li></ul><ul><li>Yen AW, Fancher TL, Bowlus CL. Revisiting hereditary hemochromatosis: current concepts and progress. Am J Med. 2006 May;119(5):391-9. PMID: 16651049 </li></ul>
  44. 44. Resources <ul><li>Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and haemochromatosis: at the crossroads. Gastroenterology 1999; 116:193–207. </li></ul><ul><li>Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol. 2000 Sep;33(3):485-504. </li></ul><ul><li>Johns Hopkins Gastroenterology and Hepatology Resource Center. (http://hopkins-gi.nts.jhu.edu accessed 12 March 2007) </li></ul>
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