Authors: A. Gaja 1; E. Žďárský 2; Z. Churý 2; H. Fraňková 1; N. Hejlová 1 Authors‘ workplace: Masarykův onkologický ústav, Brno, oddělení hematologie, vedoucí MUDr. N. Hejlová, CSc. 2Laboratoř molekulární genetiky 3. LF UK, Praha, vedoucí MUDr. E. Žďárský, CSc. 1 Published in: Prakt. Lék. 1999; (8): 451-454 Category:
Situations with iron deficiency in humans are very well known. States with an iron overloadare not so well known by our general practitioners. Patients with iron overload owing toineffective erythropoesis or repeated blood transfusions are in the care of haematologists, butthere are probably large groups of patients with familiar haemochromatosis. In these cases thediagnosis is made late or not at all. In case of a correct diagnosis and treatment in time noirreversible organ damage develops. Screening examinations for familiar haemochromatosisare quite simple and available at most haematological and biochemical laboratories. Theauthors review contemporary findings about the pathogenesis and diagnosis of the familiarhaemochromatosis supplement by description of a haemochromatic family.
Key words: iron overload - primary haemochromatosis - diagnosis.
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