[Iron storage disease].
Iron overload causes impaired function of tissues and organs due to the increased iron storage in them. Hereditary hemochromatosis is the most frequent hereditary metabolic disorder, with lethal outcome without treatment. The genetic disorder is a mutation on the short arm of the 6. chromosome, which resulted a cysteine-tyrosine substitution on the 282. amino acid position (C282Y). This mutation is less frequent in the non-Caucasian population, in opposition to the other reported mutation (H63D). The risk of the development of the disease is the highest in people who are C282Y homozygotes or C282Y/H63D compound heterozygotes. The prevalence of hemochromatosis is 1.5-5.9 per thousand. Liver disease/cirrhosis, diabetes mellitus and hyperpigmentation are the classic signs of the disease. Primer hepatocellular cancer occurs in 30% of patients with liver cirrhosis, that it is the most common cause of death among them. The diagnosis is based on the detection of iron overload (transferrin saturation, serum ferritin level, iron concentration of the liver tissue) and on the genetic examinations. Early diagnosis makes the causal therapy possible, which is the removal of the iron excess by phlebotomy. Furthermore, the early detection of iron overload allows of prevention of the development of the disease. Based in these facts population screening seems to be necessary and cost-effective, but further studies are required to determine the exact screening strategy.
Horváth
Gábor
G
BM Központi Kórház es Intézményei, I. Belgyógyászati Osztály, Budapest. ghorvath@bm.gov.hu
Dávid
Károly
K
D001224:Aspartic Acid; D006528:Carcinoma, Hepatocellular / Q000209:etiology; D002896:Chromosomes, Human, Pair 6; D003545:Cysteine; D003920:Diabetes Mellitus / Q000209:etiology; D003937:Diagnosis, Differential; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006639:Histidine; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology; D019190:Iron Overload / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D008103:Liver Cirrhosis / Q000209:etiology; D008113:Liver Neoplasms / Q000209:etiology; D008403:Mass Screening; D018962:Phlebotomy; D017354:Point Mutation; D011159:Population Surveillance; D015995:Prevalence; D011379:Prognosis; D014443:Tyrosine
D001224:Aspartic Acid; D014443:Tyrosine; D006639:Histidine; D003545:Cysteine