Iron is hot: an update on the pathophysiology of hemochromatosis.
نویسندگان
چکیده
GENETIC IRON OVERLOAD disorders are prevalent yet poorly understood. Over the past 3 years, the discoveries of the hereditary hemochromatosis gene and an intestinal iron transporter have significantly advanced our understanding of iron metabolism. Furthermore, they have suggested novel links between molecules involved in immune defense and iron homeostasis. These findings lay the foundation for developing novel strategies for understanding, diagnosing, and treating patients afflicted with iron overload disorders.
منابع مشابه
Iron overload in porphyria cutanea tarda.
BACKGROUND AND OBJECTIVE Porphyria cutanea tarda (PCT) is a disorder of porphyrin metabolism associated with decreased activity of uroporphyrinogen decarboxylase (URO-D) in the liver. The relevance of iron in the pathogenesis of PCT is well established: iron overload is one of the factors that trigger the clinical manifestations of the disease and iron depletion remains the cornerstone of thera...
متن کاملHereditary hemochromatosis: genetics, pathogenesis, and clinical management.
Recent findings have led to major advances in our understanding of genetics and pathophysiology of hereditary hemochromatosis. Many crucial genes and molecules have come to light, and the complex interrelationships between them are being studied. However, several questions still remain unanswered. Availability of genotyping has changed the approach to diagnosis, and serum markers hold promise f...
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 کاملCoinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis
Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the patho...
متن کاملHereditary hemochromatosis: update for 2003.
The term ‘hemochromatosis’ was first used by von Recklinghausen, a German pathologist in the late 1800s [1]; he determined that the pigmentation seen in patients with advanced hemochromatosis was due to iron. In 1935, Joseph Sheldon, a British geriatrician, published a monograph describing over 300 patients with hemochromatosis [2]. He concluded that the disorder was an inherited defect with al...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Blood
دوره 92 6 شماره
صفحات -
تاریخ انتشار 1998