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 کاملAASLD Practice Guidelines Diagnosis and Management of Hemochromatosis
Practice guidelines, intended for use by physicians, suggest preferable approaches to the diagnostic, therapeutic, and preventative aspects of care. These guidelines are intended to be flexible, in contrast with “standards of care,” which are inflexible policies to be followed in almost every case.1 They are developed in a manner consistent with the American Gastroenterological Associations’ Po...
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ژورنال
عنوان ژورنال: Gastroenterology
سال: 1983
ISSN: 0016-5085
DOI: 10.1016/s0016-5085(83)80143-7