Abstract.A study on thalassemia intermedia and major patients in Jakarta was initiated to obtain a comprehensive picture of metabolic dysregulation, iron overload, oxidative stress, and cell damage. Data are presented from a group of 14 transfusiondependent patients in an age range of 11-25 years (T) and another group of 9 frequently transfused (for at least 15 years) patients aged 17-30 years (L). A third group comprised 6 patients (aged 7 to 14 years) who had not yet obtained transfusions (N). The 21 controls (C) were voluntary students without diagnosis or clinical signs of thalassemia up to 30 years of age. The study was approved by the Ethical Clearance Board of the Medical Faculty and all blood samples from controls and patients were obtained on fully informed consent. Levels of antioxidants (vitamins A, C, E and β-carotene) and reactive thiols are considerably decreased in transfused patients, whereas signs of iron overload and cell damage are increased (serum iron, ferritin, transferrin saturation, SGOT, SGPT, γ-GT, bilirubin). Results can be summarized that non-transfused thalassemia intermedia patients exert slight signs of oxidative stress, and increased hemoglobin degradation but no significant indication of tissue or cell damage. This picture differs considerably from transfusion-dependent thalassemia major patients: highly significant decrease in antioxidants and thiols and tremendous iron overload and cell damage. The picture is even worsened in long-term transfused patients. Iron chelation after transfusion is not sufficient in Indonesia, because it is normally (with few exceptions) applied only once together with transfusion. Hence, one major reason of the bad condition of transfusion-dependent thalassemia patients in Indonesia appears to be frequent transfusions (on the average one per month) and insufficient chelation of one treatment per month together with transfusion.

AbstrakThalassemia  mayor adalah penyakit yang disebabkan oleh kelainan sintesis rantai polipeptida  yang diturunkan secara otosom resesif. Pengobatan thalassemia  mayor pada umumnya berupa pemberian transfusi berulang, yang mengakibatkan penumpukan besi dan berakhir dengan hemokromatosis. Penumpukan besi dapat terjadi pada organ tubuh antara lain ginjal. Tujuan penelitian ini untuk mengetahui adanya gangguan fungsi ginjal pada penderita thalassemia mayor berumur 15-28 tahun yang telah mendapatkan 6 unit packed red cells. Pada penelitian ini telah diperiksa kadar besi serum (SI) dan daya ikat besi total (TIBC) serta kadar mikroalbumin dan 2-mikroglobulin (2-m) dalam urin. Hasil yang didapat 94,7% penderita menunjukkan peningkatan saturasi transferin dan 40% diantaranya disertai hemokromatosis; 73,4% disertai mikroalbuminuria, 1,3% dengan albuminuria dan 21,3% dengan peningkatan 2-m urin. Jumlah kasus dengan kelainan ginjal dijumpai pada 78,6%. (Med J Indones 2003; 12: 215-223)Abstract  -thalassemia major is a disease caused by  polypeptide chain synthesis disorder which is inherited in an autosomal recessive manner from both parents and which is marked by little or no -globin chain synthesis. Treatment for -thalassemia major patients is by giving repeated blood transfusions, which causes iron accumulation, leading to hemochromatosis. Iron accumulation can occur in various body organ, including the kidneys. The aim of this study was to investigate the existence of renal impairment in thalassemia major patients. The subjects of this study were -thalassemia major patients aged 15 -28 years old who had received 6 units of packed red cells or more within 6 months. In this study, urine and serum samples of the subjects were taken and examined. Assay of serum iron was performed with Hitachi 737. Results were that 94.7% patients showed an increase in transferrin saturation and 40% of them had hemochromatosis; 73.4% had microalbuminuria; 1.3% had albuminuria and 21.3% had increased urinary 2microglobulin (2-m). A total of 78.6% of patients showed renal impairment. Conclusion of this study suggested that glomerular dysfunction happens in an earlier stage of the disease process. The high incidence of microalbuminuria is also attributed to defective ability of the proximal tubular cells to reabsorb protein besides dysfunction of the glomeruli. (Med J Indones 2003; 12: 215-223)

Thalassemia  mayor adalah penyakit yang disebabkan oleh kelainan sintesis rantai polipeptida  yang diturunkan secara otosom resesif. Penanganan kasus dengan thalassemia  mayor berupa pemberian transfusi berulang yang akan mengakibatkan hemokromatosis. Hemokromatosis dapat terjadi pada beberapa organ tubuh termasuk pankreas. Tujuan penelitian ini untuk mendapatkan kadar gula darah dan angka kejadian hemokromatosis pada penderita thalassemia  mayor. Telah diperiksa kadar gula darah puasa dan kadar ferritin serum pada 115 penderita thalassemia  mayor yang berumur 10-23 tahun dari Pusat Thalassemia