(untitled) (Majalah Kedokteran Bandung, 2015)
Kelebihan besi merupakan penyebab morbiditas dan mortalitas penderita thalassemia Î² berat. Terdapat berbagai faktor yang memengaruhi status besi thalassemia Î² berat. Penelitian ini bertujuan menganalisis hubungan tipe thalassemia Î² serta polimorfisme c.-582 A>G promotor gen hepcidine antimicrobacterial peptide (HAMP) dengan status besi thalassemia Î² berat baru. Penelitian dengan metode potong lintang dilakukan di Rumah Sakit Dr. Hasan Sadikin/Fakultas Kedokteran Universitas Padjadjaran Bandung selama November–Desember 2012. Subjek penelitian adalah penderita thalassemia Î² berat yang baru didiagnosis berdasarkan pemeriksaan klinis dan laboratorium. Subjek belum pernah mendapatkan transfusi darah dan memiliki kadar C-reactive protein normal. Status besi dinilai dengan mengukur kadar feritin serum (FS) dan saturasi transferin (ST). Analisis statistik yang digunakan adalah uji-t, Uji Mann-Whitney, dan uji chi-kuadrat. Didapatkan 29 subjek thalassemia Î² berat baru, 24 thalassemia Î² mayor dan 5 thalassemia Î²/HbE berat. Tidak ada perbedaan status besi antara kedua tipe thalassemia Î² berat baru maupun antara yang mengalami polimorfisme dan yang tidak mengalami polimorfisme c.-582 A>G promotor gen HAMP (p>0,05). Simpulan, tipe thalassemia Î² berat dan polimorfisme c.-582 A>G promotor gen HAMP tidak berhubungan dengan status besi penderita thalassemia Î² berat yang baru didiagnosis. [MKB. 2015;47(3):192-98] Kata kunci: Feritin, polimorfisme c.-582 A>G promotor gen HAMP, saturasi transferin, thalassemia Î² berat Association of Î²-thalassemia Type and Polymorphisms of c.-582 A>G Promoter HAMP Gene and Iron Status in Newly Diagnosed Severe Î²-thalassemia Abstract Iron overload is the common cause of morbidity and mortality in severe Î²-thalassemia patients. Many factors influence the iron status in severe Î²-thalassemia. This study aimed to analyze the association of Î²-thalassemia type, polymorphism c.-582 A>G promotor hepcidine antimicrobacterial peptide (HAMP) gene, and iron status in newly diagnosed severe Î²-thalassemia. A cross-sectional study was performed at Dr. Hasan Sadikin General Hospital/Faculty of Medicine, Universitas Padjadjaran Bandung from November to December 2012. Subjects were newly diagnosed severe Î²-thalassemia patients who were diagnosed based on clinical manifestation and laboratory examination. Subjects had not received any blood transfusion before and had normal CRP level. Transferrin saturation (TS) and serum ferritin (SF) levels indicate iron status. The statistical analysis was performed using t test, Mann-Whitney, and Chi square test. Twenty nine subjects were diagnosed as newly severe Î²-thalassemia, 24 Î²-thalassemia mayor and 5 with severe Î²-thalassemia/HbE. There was no difference in the iron status between the two types of severe Î²-thalassemia and between those with and without polymorphism of c.-582 A>G promotor HAMP gene in newly diagnosed severe Î²-thalassemia (p>0.05). In conclusiosn, the Î²-thalassemia type and polymorphism of c.-582 A>G promotor HAMP gene do not associate with the iron status in newly diagnosed severe Î²-thalassemia patients. [MKB. 2015;47(3):192-98] Key words: Ferritin, polymorphism of c.-582 A>G promotor HAMP gene, severe Î²-thalassemia, transferrin ration DOI: 10.15395/mkb.v47n3.599