Positive HFE analysis confirms the clinical diagnosis of haemochromatosis in asymptomatic individuals with blood tests showing increased iron stores, or for predictive testing of individuals with a family history of haemochromatosis. The alleles evaluated by HFE gene analysis are evident in ~80% of patients with haemochromatosis; a negative report for HFE gene does not rule out haemochromatosis. First degree relatives of those with primary haemochromatosis should be screened to determine if they are a carrier or if they could develop the disease. This can allow preventive measures to be taken. Screening the general population is not recommended. Biopsy
Liver biopsy is the removal of small sample in order to be studied and can determine the cause of inflammation or cirrhosis. In someone with negative HFE gene testing, elevated iron status for no other obvious reason, and family history of liver disease, additional evaluation of liver iron concentration is indicated. In this case, diagnosis of haemochromatosis is based on biochemical analysis and histologic examination of a liver biopsy. Assessment of the hepatic iron index (HII) is considered the "gold standard" for diagnosis of haemochromatosis.Magnetic resonance imaging (MRI) is used as a noninvasive way to accurately estimate iron deposition levels in the liver as well as heart, joints, and pituitary gland. Treatment
Phlebotomy
Phlebotomy/venesection: routine treatment consists of regularly scheduled phlebotomies (bloodletting or erythrocytapheresis). When first diagnosed, the phlebotomies may be performed every week or fortnight, until iron levels can be brought to within normal range.
Another procedure is posterior colporrhaphy, which involves suturing of vaginal tissue. Surgery may also involve insertion of a supporting mesh (that is, a patch). There are also surgical techniques directed at repairing or strengthening the rectovaginal septum, rather than simple excision or plication of vaginal skin which provides no support. Both gynecologists and colorectal surgeons can address this problem. Potential complications of surgical correction of a rectocele include bleeding, infection, dyspareunia (pain during intercourse), as well as recurrence or even worsening of the rectocele symptoms. The use of synthetic or biologic grafts has been questioned. References
External links

Rectocele details, description, video (in Russia)