Abstract
Background: Diagnostic approach to the simultaneous inheritance of beta-thalassemia and hereditary hemochromatosis might be quite complex due to the fact that severe beta-thalassemia itself may lead to hemochromatosis. On the other hand, beta-thalassemia minor accompanied by some heterozygous form of HFE polymorphism may also lead to the disease manifestation. These conditions as well as the homozygous forms of HFE polymorphisms are hemochromatosis risk factors that may lead to liver cirrhosis and hepatocellular carcinoma. Therefore, early diagnosis is crucial for patient quality of life and life expectancy. Methods: A febrile patient admitted to Department of Infectious Diseases, Osijek University Hospital, with hepatosplenomegaly and some neurological symptoms has been chosen for this case report. Basic laboratory tests as well as ultrasound examination of the abdomen and magnetic resonance imaging of the head were performed shortly upon admission. Liver biopsy, hemoglobin electrophoresis, haptoglobin concentration and Cys282Tyr polymorphism determination were subsequently obtained. Results: History data and laboratory findings suggested the diagnosis of beta-thalassemia. Extended laboratory work-up pointed to the diagnosis of pigment cirrhosis-hemochromatosis, and verified the diagnosis of beta-thalassemia minor. Appropriate molecular diagnostic procedure indicated the homozygous form of hereditary hemochromatosis. Conclusions: In this case of homozygous hereditary hemochromatosis and beta-thalassemia minor coinheritance, serum ferritin concentration, tran-sferrin saturation, hemoglobin electrophoresis and HFE gene Cys282Tyr polymorphism analysis proved to be crucial for the relatively fast establishment of accurate diagnosis. Recognition of the homozygous form of hemochromatosis in association with beta-thalassemia minor explained the complexity and severity of the disease presentation.
Highlights
800-1500 mg of iron mainly deposited in the liver, spleen and bone marrow macrophages is the usual amount of this metal present in the human body
Hereditary hemochromatoses are subdivided into hereditary hemochromatosis (HH), hereditary hemolytic anemias and congenital atransferrinemia, whereas secondary hemochromatoses are subdivided into blood transfusion related type, iron therapy related type, hepatitis related type and African nutritional hemochromatosis caused by the intake of alcohol drinks prepared in iron containers (1)
Even some of the heterozygous HFE carriers suffering from betatalasemije minor (BTM) may develop hemochromatosis related symptoms (8,9). All these facts point to the need of an overview of the diagnostic work-up required for timely identification of patients with coinheritance of these two diseases and of the procedures appropriate for the risk stratification for the development of hemochromatosis in these patients. Such an overview is given as part of the following case report in which we present a patient that had simultaneously inherited a homozygous Cys282Tyr HFE mutation and BTM
Summary
800-1500 mg of iron mainly deposited in the liver, spleen and bone marrow macrophages is the usual amount of this metal present in the human body. Recognition of HH is crucial to prevent the most severe sequels like liver cirrhosis and hepatocellular carcinoma (4). For this purpose, the following laboratory tests should be obtained: blood iron (> 32 μmol/L), ferritin concentration (> 500 μg/L), transferrin saturation (> 62%), liver biopsy and molecular analysis of known HFE polymorphisms. Beta-thalassemia minor accompanied by some heterozygous form of HFE polymorphism may lead to the disease manifestation. These conditions as well as the homozygous forms of HFE polymorphisms are hemochromatosis risk factors that may lead to liver cirrhosis and hepatocellular carcinoma. Early diagnosis is crucial for patient quality of life and life expectancy
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