Hereditary hemochromatosis: a neglected diagnosis in orthopedics
نویسندگان
چکیده
منابع مشابه
Hereditary 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: 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 کاملDiagnosis 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 angioneurotic oedema: a neglected diagnosis.
A case of hereditary angioneurotic oedema, which was only diagnosed after presentation to several hospital departments, is reported. It was then discovered that the mother of the patient had the same condition but that, unusually, it appeared to have been in remission for more than 20 years. This disease, due to C1 esterase inhibitor deficiency, is potentially fatal but easily treatable. The di...
متن کاملHereditary hemochromatosis.
Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Acta Orthopaedica
سال: 2009
ISSN: 1745-3674,1745-3682
DOI: 10.3109/17453670903035583