Diagnostic difficulties of primary hemochromatosis in a patient with posthemorrhagic anemia

Abstract

Hereditary hemochromatosis (HH) is a disease with an autosomal recessive hereditary type, stipulated by the genetic defect that leads to a high intestinal absorption of iron and primary accumulation in the parenchymal cells of the liver and other organs. This is the most common hereditary disease among White population, the frequency is about 1 case per 250 people. The prevalence of HH is inhomogeneous, people from countries in Northern Europe, especially Scandinavian, are more susceptible to this disease. Mutations of the HFE gene account for approximately 90% of HH cases. In HH excess iron deposits mainly in the cytoplasm of parenchymal cells of various organs and tissues: in the liver, pancreas, endocrine glands, skin and joints. The clinical picture of HH is characterized by the classical triad development: cirrhosis of the liver, diabetes mellitus (DM) and hyperpigmentation. HH may also manifest itself as various endocrinopathies (hypofunction of hypophysis, adrenal glands, thyroid gland, arthropathy, cardiomyopathy). Diagnostics of HH is based on the determination of the iron metabolism values: serum iron, transferrin saturation, the amount of ferritin, the genetic tests, liver biopsy data are used to confirm the diagnosis. Despite the fact that HH is a well-studied disease, in some cases it is complicated to diagnose it. Developed posthemorrhagic anemia in a patient is one of such reasons when the iron metabolism test is not informative.