The present invention provides methods to identify hemochromatosis in an individual. For example, the invention provides a method of detecting reduced association of .beta..sub.2 -microglobulin with a nonclassical MHC class I heavy chain molecule or a mutation in nonclassical MHC class I heavy chain-encoding DNA which results in a reduction of .beta..sub.2 -microglobulin-heavy chain association indicating that the individual tested has or is at risk of having hemochromatosis.
The invention provides a method of diagnosing hemochromatosis or a predisposition thereto by detecting an increase in erythrocyte parameters such as mean corpuscular volume or mean corpuscular hemoglobin compared to normal individuals unaffected by hemochromatosis.
This invention relates generally to the gene, and mutations, that are responsible for the disease hemochromatosis (HH). In particular, the present invention provides for the presence of one or more mutations on the ferroportin 1 (SLC11A3) gene which results in aberrant SLC11A3 mediated iron transport. The invention also relates to methods for diagnostic tools, drugs and therapies developed for the treatment of patients with HH or anemia.
