Incorrect diagnosis of hereditary hemochromatosis
نویسندگان
چکیده
منابع مشابه
Diagnosis and management of hereditary hemochromatosis.
Hereditary hemochromatosis is inherited in an autosomal recessive manner with partial biochemical expression in heterozygotes. A high percentage of saturation of serum transferrin is the hallmark of the disorder, and serum ferritin concentration gives an approximate estimation of the size of iron stores. Hepatic computed tomography, magnetic susceptometry, and nuclear magnetic resonance provide...
متن کاملHereditary Hemochromatosis: Risk Factors, Classifications, Diagnosis
Hereditary hemochromatosis (HH), also termed “genetic hemochromatosis”, is a genetic autosomal recessive disorder which occurs as a result of genetic mutations of certain genes (HFE gene) involved in the metabolism of iron, resulting in increased intestinal iron absorption. Common initial symptoms comprise abdominal pain, paleness, lethargy, and weight loss. The start of symptoms is between 30 ...
متن کاملHereditary hemochromatosis: a neglected diagnosis in orthopedics
Hereditary hemochromatosis (HH) is a not uncommon auto-somal recessive and potentially life-threatening disease. The hemochromatosis gene was identified by Feder et al. in 1996. About 1 in 200 individuals is estimated to be homozygous for the most common mutation—C282Y/C282Y. In the classical form of the disease, cysteine is substituted by tyrosine at amino acid 282 in both alleles. The so-call...
متن کاملHereditary hemochromatosis.
Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.
متن کاملHereditary hemochromatosis.
Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. End-organ damage or clinical manifestati...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2000
ISSN: 0361-8609,1096-8652
DOI: 10.1002/(sici)1096-8652(200002)63:2<104::aid-ajh12>3.0.co;2-j