Hereditary hemochromatosis (HH) is known as an iron overload disease because too much iron ends up being absorbed from the diet and is stored inappropriately in many organs. Since iron is a reactive metal, this can be dangerous and cause failure of these organs. There are multiple types of HH which are caused by different genetic mutations to genes which are responsible for regulating how much iron is absorbed by the body. These different types all end up resulting in essentially the same iron overload and symptoms associated with it but can vary in severity and onset in life. For example, people with Type 1 HH don’t generally experience signs or symptoms of their iron overload until middle age, while people with Type 2 HH can develop these symptoms in childhood (hence type 2 also being referred to as juvenile HH). The complications of leaving HH untreated can include cirrhosis, diabetes, heart failure, and joint pain all due to the depositing of iron in the locations involved in these symptoms (liver, pancreas, heart and joints respectively). If caught before much damage from iron overload has been done, patients with HH can be treated with routine phlebotomy which is essentially the same as process as donating blood since this is a way to get rid of some of the excess iron these patients have. Another treatment option is oral or injected iron chelators which are substances which bind to the excess iron in circulation and allow it to be excreted by the body. Unfortunately, there are no treatments which can reverse the damage of iron deposits in organs and other areas of the body if this has already occurred. In these cases symptoms like cirrhosis and diabetes would need to be managed by other therapies in addition to phlebotomy or iron chelation.
There has recently been research done into drugs which could be used for the treatment of HH so that the invasive phlebotomy might be avoided for some patients. One such type of drug is thiazolidinones which are derived into many different types of well known drugs such as antidiabetics, anticancer and antibiotics. In one experiment, a research group created a library of many different types of thiazolidinones and discovered 3 which were promising for treating mice which modeled Hereditary Hemochromatosis. These 3 drugs were shown to decrease iron levels and increase hepcidin levels which is a protein that is known to be very low in people with HH. These novel compounds should be studied further in order to properly understand how they function in the body (first in mice and then in humans), but showed promising abilities to lower iron levels for patients with HH.
Liu, J., Liu, W., Liu, Y., Miao, Y., Guo, Y., Song, H., . . . Liu, S. (2019). New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia. Haematologica,104(9), 1768-1781. doi:10.3324/haematol.2018.209874