Hubungan Tipe Thalassemia β serta Polimorfisme c.-582 A>G Promotor Gen HAMP dan Status Besi thalassemia β Berat Baru

Abstract

Kelebihan besi merupakan penyebab morbiditas dan mortalitas penderita thalassemia β berat. Terdapat berbagai faktor yang memengaruhi status besi thalassemia β berat. Penelitian ini bertujuan menganalisis  hubungan  tipe thalassemia β serta polimorfisme c.-582 A>G promotor gen hepcidine antimicrobacterial peptide (HAMP) dengan status besi thalassemia β 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 β 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 β berat baru, 24 thalassemia β mayor dan 5 thalassemia β/HbE berat. Tidak ada perbedaan status besi antara kedua tipe thalassemia β 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 β berat dan polimorfisme c.-582  A>G promotor gen HAMP tidak berhubungan dengan status besi penderita thalassemia β berat yang baru didiagnosis. [MKB. 2015;47(3):192-98]

Kata kunci: Feritin, polimorfisme c.-582 A>G promotor gen HAMP, saturasi transferin, thalassemia β berat


Association of β-thalassemia Type and Polymorphisms of c.-582 A>G Promoter HAMP Gene and Iron Status in Newly Diagnosed Severe β-thalassemia

Abstract

Iron overload is the common  cause of morbidity and mortality in severe β-thalassemia patients. Many factors influence the  iron status in severe β-thalassemia. This study aimed to analyze the association of β-thalassemia type, polymorphism c.-582 A>G promotor hepcidine antimicrobacterial peptide (HAMP) gene,  and  iron  status in newly diagnosed severe β-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 β-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 β-thalassemia, 24 β-thalassemia mayor and 5 with severe β-thalassemia/HbE. There was no difference in the iron status between the two types of severe β-thalassemia  and  between those with and without polymorphism of c.-582 A>G promotor HAMP gene in  newly  diagnosed severe  β-thalassemia (p>0.05). In conclusiosn, the  β-thalassemia type and polymorphism of c.-582 A>G  promotor HAMP  gene do  not  associate with the iron status  in  newly diagnosed severe β-thalassemia patients.  [MKB. 2015;47(3):192-98]

Key words: Ferritin, polymorphism of  c.-582 A>G  promotor HAMP gene, severe β-thalassemia, transferrin ration

DOI: 10.15395/mkb.v47n3.599