Genetic Studies by Sanger
Initial study for Hereditary Hemochromatosis (C282Y mutation in HFE gene) (Code 20051)
Hereditary hemochromatosis (HH) type 1, also called classical hemochromatosis (OMIM # 235200) is the most common form of HH and is mainly due to the homozygous Cys282Tyr mutation of the HFE gene. This type of HH affects men more than women. From the clinical point of view, the disease can develop between 30 and 50 years of age.
Type 1 hemochromatosis causes chronic fatigue, dark pigmentation of the skin and can severely affect the liver, pancreas, joints, bones, endocrine glands, or heart, resulting in various complications that appear in adulthood, such as hepatic fibrosis, cirrhosis with risk of hepatocellular carcinoma, Diabetes mellitus, arthropathy, osteoporosis, hypogonadotropic hypogonadism and heart failure. Biochemical abnormalities include elevated serum iron levels, serum transferrin saturation, and serum ferritin levels. A genetic analysis with a result homozygous for the Cys282Tyr mutation in HFE gene confirms the diagnosis of HH in a noninvasive way.
The treatment consists of phlebotomy (blood drainage), initially performed weekly, and subsequently reduces the frequency of blood draws. Type 1 hemochromatosis has a very good prognosis if it is diagnosed early and if it is treated properly before the development of serious complications.
References
- Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Jr., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., and 21 others. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet. 13: 399-408, 1996. [PubMed: 8696333]
- Sánchez M, Bruguera M, Bosch J, Rodés J, Ballesta F, Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J Hepatol. 1998 Nov;29(5):725-8. [PubMed: 9833909].
- Sánchez M, Bruguera M, Quintero E, Barrio Y, Mazzara R, Rodés J, Oliva R.Hereditary hemochromatosis in Spain. Genet Test. 2000;4(2):171-6. [PubMed: 10953957].
- Sánchez M, Villa M, Ingelmo M, Sanz C, Bruguera M, Ascaso C, Oliva R. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. J Hepatol. 2003 Jun;38(6):745-50. [PubMed: 12763366].