Clinical utility and outcome of HFE-genotyping in the search for hereditary hemochromatosis
✍ Scribed by Jokke Hannuksela; Onni Niemelä; Mari Leppilampi; Anna-Kaisa Parkkila; Pirjo Koistinen; Pentti Nieminen; Seppo Parkkila
- Book ID
- 117074908
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 134 KB
- Volume
- 331
- Category
- Article
- ISSN
- 0009-8981
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Homozygosity for the mutation Cys282Tyr in the HFE gene has recently been identified as a cause of hereditary hemochromatosis, a disorder resulting in the inappropriate absorption of iron. Approximately 10% of Caucasians are heterozygous for this mutation; however, the gene frequency in African Amer
Hereditary hemochromatosis (HH) is characterized by increased intestinal iron absorption that may result in iron overload. Although phlebotomy is widely practiced, it is poorly tolerated or contraindicated in patients with anemias, severe heart disease, or poor venous access, and compliance can vary