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Homozygous form of hereditary hemochromatosis in a patient with beta-thalassemia minor: case report

Dunja Buljubašić ; University Department of Internal Medicine, Osijek University Hospital, Osijek, Croatia
Tatjana Ladenhauser-Palijan ; University Department of Internal Medicine, Osijek University Hospital, Osijek, Croatia
Željko Debeljak orcid.org/0000-0002-1789-5387 ; Department of Clinical Laboratory Diagnosis, Osijek University Hospital, Osijek, Croatia

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.

Keywords

hemochromatosis; beta-thalassemia; transferrin saturation; HFE; hemoglobin electrophoresis

Hrčak ID:

37622

URI

https://hrcak.srce.hr/37622

Publication date:

3.6.2009.

Article data in other languages: croatian

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