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June 23, 1993, Vol 269, No. 24 >
ARTICLE | June 23, 1993

Hereditary Hemochromatosis FREE

Tracey A. Rouault, MD
[+] Author Affiliations

Reprint requests to National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 (Dr Rouault).


JAMA. 1993;269(24):3152-3154. doi:10.1001/jama.1993.03500240096033
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References

SELECTED CASE  A 44-year-old man had shoulder and finger pain and consulted his local physician. Screening blood tests were obtained as part of the initial evaluation and revealed the following values: hemoglobin, 135 g/L; hematocrit, 0.40; serum iron, 37 μmol/L (209 μg/dL); transferrin, 2.19 g/L; transferrin saturation, 95%; and serum ferritin, 2430 μg/L. Liver function tests revealed the following values: aspartate aminotransferase, 43 U/L; alanine aminotranferase, 68 U/L; and alkaline phosphatase and bilirubin, normal. A liver biopsy was performed and examination of tissue sections revealed fatty metamorphosis and an increase in fibrous tissue in portal areas consistent with early cirrhosis. Large amounts of parenchymal iron were noted on Prussian blue staining, particularly in the periportal area.The diagnosis based on the test results was hemochromatosis, and a phlebotomy program was initiated. The patient was referred to the National Institutes of Health where on physical examination the absence of frank arthritis

REFERENCES

1 +
Bothwell TH, Charlton RW, Motulsky AG.  Idiopathic hemochromatosis.  In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The Metabolic Basis of Inherited Disease . New York, NY: McGraw-Hill International Book Co; 1983;:1269-1298.
2 +
Smith LH.  Overview of hemochromatosis. West J Med . 1990;;153:296-308.
3 +
Crawford DHG, Halliday JW.  Current concepts in rational therapy for haemochromatosis. Drugs . 1991;;41:875-882.
4 +
Crawford R. The Iron Elephant . Glyndon, Md: Bida Publishing; 1992;.
5 +
Adams PC, Kertesz AE, Valberg LS.  Clinical presentation of hemochromatosis: a changing scene. Am J Med . 1991;;90:445-449.
6 +
Cox TM, Lord DK.  Hereditary hemochromatosis. Eur J Haematol . 1989;;42:113-125.
7 +
Milder MS, Cook JD, Stray S, Finch CA.  Idiopathic hemochromatosis: an interim report. Medicine . 1980;;59:34-47.
8 +
Idzerda RL, Huebers H, Finch CA, McKnight GS.  Rat transferrin gene expression: tissue-specific regulation by iron deficiency. Proc Natl Acad Sci U S A . 1986;;83:3723-3727.
9 +
Niederau C, Rudolf F, Sonnenberg A, Trampisch HJ.  Survival and causes of death in cirrhotic and in non-cirrhotic patients with primary haemochromatosis. N Engl J Med . 1985;;313:1256-1262.
10 +
Simon M, Yaouanq J, Fauchet R, Le Gall JY, Brissot P, Bourel M.  Genetics of hemochromatosis: HLA association and mode of inheritance. Ann N Y Acad Sci . 1988;;526:11-22.
11 +
Cook JD.  Adaptation in iron metabolism. Am J Clin Nutr . 1990;;51:301-308.
12 +
Granick S.  Increase of the protein apoferritin in the gastrointestinal mucosa as a direct response to iron feeding: the function of ferritin in the regulation of iron absorption. J Biol Chem . 1946;;164:737-746.
13 +
Conrad ME, Crosby WH.  Intestinal mucosal mechanisms controlling iron absorption. Blood . 1963;; 22:406-415.
14 +
Bacon BR, Britton RS.  The pathology of hepatic iron overload: a free radical-mediated process? Hepatology . 1990;;11:127-137.
15 +
Schumacher HR, Straka PC, Krikker MA, Dudley AT.  The arthropathy of hemochromatosis: recent studies. Ann N Y Acad Sci . 1988;;526:224-233.
16 +
Kelly TM, Edwards CQ, Meikle AW, Kushner JP.  Hypogonadism in hemochromatosis: reversal with iron depletion. Ann Intern Med . 1984;;101:629-632.
17 +
Siemons LJ, Mahler CH.  Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion. J Clin Endocrinol Metab . 1987;;65:585-587.
18 +
Gordeuk V, Mukiibi J, Hasstedt SJ, et al.  Iron overload in Africa: interaction between a gene and dietary iron. N Engl J Med . 1992;;326:95-100.
19 +
Haile DJ, Rouault TA, Tang CK, Chin J, Harford JB, Klausner RD.  Reciprocal control of RNA binding and aconitase activity in the regulation of the iron responsive element binding protein: role of the iron-sulfur cluster. Proc Natl Acad Sci U S A . 1992;;89:7536-7540.
20 +
Jankovic GM, Colovic MD, Petrovic MD, et al.  Selective advantage for females with h-allele? Eur J Haematol . 1989;;43:265-266.
21 +
Jankovic GM, Petrovic MD, Colovic MD, Milosevic RA, Janosevic S, Trpinac DP.  Increased transplacental and breast milk iron delivery in hereditary hemochromatosis: an evolutionary enigma resolved? Am J Hematol . 1991;;38:153-155.
22 +
Salonen JT, Nyyssonen K, Korpela H, Tuomelehto J, Seppanen R, Salonen R.  High stored iron levels are associated with excess risk of myocardial infarction in eastern Finnish men. Circulation . 1992;; 86:803-811.

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1 +
Bothwell TH, Charlton RW, Motulsky AG.  Idiopathic hemochromatosis.  In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The Metabolic Basis of Inherited Disease . New York, NY: McGraw-Hill International Book Co; 1983;:1269-1298.
2 +
Smith LH.  Overview of hemochromatosis. West J Med . 1990;;153:296-308.
3 +
Crawford DHG, Halliday JW.  Current concepts in rational therapy for haemochromatosis. Drugs . 1991;;41:875-882.
4 +
Crawford R. The Iron Elephant . Glyndon, Md: Bida Publishing; 1992;.
5 +
Adams PC, Kertesz AE, Valberg LS.  Clinical presentation of hemochromatosis: a changing scene. Am J Med . 1991;;90:445-449.
6 +
Cox TM, Lord DK.  Hereditary hemochromatosis. Eur J Haematol . 1989;;42:113-125.
7 +
Milder MS, Cook JD, Stray S, Finch CA.  Idiopathic hemochromatosis: an interim report. Medicine . 1980;;59:34-47.
8 +
Idzerda RL, Huebers H, Finch CA, McKnight GS.  Rat transferrin gene expression: tissue-specific regulation by iron deficiency. Proc Natl Acad Sci U S A . 1986;;83:3723-3727.
9 +
Niederau C, Rudolf F, Sonnenberg A, Trampisch HJ.  Survival and causes of death in cirrhotic and in non-cirrhotic patients with primary haemochromatosis. N Engl J Med . 1985;;313:1256-1262.
10 +
Simon M, Yaouanq J, Fauchet R, Le Gall JY, Brissot P, Bourel M.  Genetics of hemochromatosis: HLA association and mode of inheritance. Ann N Y Acad Sci . 1988;;526:11-22.
11 +
Cook JD.  Adaptation in iron metabolism. Am J Clin Nutr . 1990;;51:301-308.
12 +
Granick S.  Increase of the protein apoferritin in the gastrointestinal mucosa as a direct response to iron feeding: the function of ferritin in the regulation of iron absorption. J Biol Chem . 1946;;164:737-746.
13 +
Conrad ME, Crosby WH.  Intestinal mucosal mechanisms controlling iron absorption. Blood . 1963;; 22:406-415.
14 +
Bacon BR, Britton RS.  The pathology of hepatic iron overload: a free radical-mediated process? Hepatology . 1990;;11:127-137.
15 +
Schumacher HR, Straka PC, Krikker MA, Dudley AT.  The arthropathy of hemochromatosis: recent studies. Ann N Y Acad Sci . 1988;;526:224-233.
16 +
Kelly TM, Edwards CQ, Meikle AW, Kushner JP.  Hypogonadism in hemochromatosis: reversal with iron depletion. Ann Intern Med . 1984;;101:629-632.
17 +
Siemons LJ, Mahler CH.  Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion. J Clin Endocrinol Metab . 1987;;65:585-587.
18 +
Gordeuk V, Mukiibi J, Hasstedt SJ, et al.  Iron overload in Africa: interaction between a gene and dietary iron. N Engl J Med . 1992;;326:95-100.
19 +
Haile DJ, Rouault TA, Tang CK, Chin J, Harford JB, Klausner RD.  Reciprocal control of RNA binding and aconitase activity in the regulation of the iron responsive element binding protein: role of the iron-sulfur cluster. Proc Natl Acad Sci U S A . 1992;;89:7536-7540.
20 +
Jankovic GM, Colovic MD, Petrovic MD, et al.  Selective advantage for females with h-allele? Eur J Haematol . 1989;;43:265-266.
21 +
Jankovic GM, Petrovic MD, Colovic MD, Milosevic RA, Janosevic S, Trpinac DP.  Increased transplacental and breast milk iron delivery in hereditary hemochromatosis: an evolutionary enigma resolved? Am J Hematol . 1991;;38:153-155.
22 +
Salonen JT, Nyyssonen K, Korpela H, Tuomelehto J, Seppanen R, Salonen R.  High stored iron levels are associated with excess risk of myocardial infarction in eastern Finnish men. Circulation . 1992;; 86:803-811.

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