Homozigotni oblik nasljedne hemokromatoze u bolesnika s beta-talasemijom minor: prikaz slučaja

• Main Authors: Buljubašić, Dunja; University Department of Internal Medicine, Osijek University Hospital, Osijek, Croatia; [e-mail], Ladenhauser-Palijan, Tatjana; University Department of Internal Medicine, Osijek University Hospital, Osijek, Croatia, Debeljak, Željko; Department of Clinical Laboratory Diagnosis, Osijek University Hospital, Osijek, Croatia
• Format: Text
• Language: Croatian; English
• Published: Medicinska naklada; [e-mail] 2009
• Subjects: hemokromatoza; beta-talasemija; zasićenje transferina željezom; HFE; elektroforeza hemoglobina; hemochromatosis; beta-thalassemia; transferrin saturation; hemoglobin electrophoresis; sami
• Online Access: http://hrcak.srce.hr/37622; http://hrcak.srce.hr/file/59129; http://hrcak.srce.hr/file/59130

Uvod: Dijagnostički pristup bolesniku koji istodobno boluje od nasljedne hemokromatoze i beta-talasemije može biti dosta složen zbog činjenice da teži oblici beta-talasemije sami po sebi mogu imati za posljedicu hemokromatozu. S druge strane, i najlakši oblik beta-talasemije može dovesti do ozbiljnih manifestacija hemokromatoze u bolesnika s heterozigotnim oblikom HFE polimorfizama. Ova stanja, kao i HFE polimorfizmi naslijeđeni u homozigotnom obliku kao rizični čimbenici za razvoj hemokromatoze mogu imati za posljedicu cirozu jetre i hepatocelularni karcinom pa pravodobno prepoznavanje navedenih stanja ima presudno značenje za dužinu i kvalitetu bolesnikova života. Metode: Za prikaz slučaja izabran je bolesnik primljen na Kliniku za zarazne bolesti Kliničke bolnice Osijek s febrilitetom, hepatosplenomegalijom i neurološkim simptomima. Kod prijma su učinjene osnovne laboratorijske pretrage te ultrazvučni pregled abdomena i snimanje glave magnetskom rezonancijom. Naknadno je provedena biopsija jetre, elektroforeza hemoglobina te određivanje koncentracije haptoglobina i utvrđivanje Cys282Tyr polimorfizma HFE gena. Rezultati: Anamnestički podaci i rezultati rutinske laboratorijske obrade su ukazali na mogućnost da bolesnik boluje od beta-talasemije. Proširenom laboratorijskom obradom je dijagnosticirana pigmentna ciroza-hemokromatoza, a potvrđena je dijagnoza beta-talasemije minor. Odgovarajući moleularno-dijagnostički postupak je dokazao prisutnost homozigotnog oblika nasljedne hemokromatoze. Zaključak: Određivanje koncentracije feritina i zasićenje transferina željezom, elektroforeza hemoglobina i utvrđivanje polimorfizma Cys282Tyr HFE gena pokazali su se ključnim čimbenicima za relativno brzo postavljanje ispravne dijagnoze u prikazanom slučaju istodobnog nasljeđivanja beta-talasemije minor i homozigotnog oblika nasljedne hemokromatoze. Homozigotni oblik nasljedne hemokromatoze uz beta-talasemiju minor objašnjava težinu simptoma prisutnih kod bolesnika u vrijeme hospitalizacije. 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.