Hasil Pencarian  ::  Simpan CSV :: Kembali

"ABSTRAKPendahuluan: Thalassemia adalah suatu kelainan genetik akibat kegagalan sintesis rantai globin, mengakibatkan terjadinya anemia berat akibat peningkatan aktivitas eritropoiesis yang inefektif dan hemolisis. Peningkatan aktivitas eritropoiesis akan memacu peningkatan absorpsi besi di usus sehingga terjadi kelebihan besi dalam tubuh. Transfusi darah dilakukan secara berkala untuk mengatasi anemia yang timbul pada pasien thalassemia mayor. Pemberian transfusi berulang akan mempercepat terjadi secondary iron overload, untuk mengatasinya diberikan terapi kelasi rutin.Tujuan : Mendapatkan perubahan nilai indeks transferin, saturasi transferin, dan feritin sebelum dan sesudah transfusi dan juga sebelum dan sesudah terapi kelasi pada pasien thalassemia mayor. Mendapatkan perbedaan indeks transferin dan saturasi transferin, dan feritin sebagai parameter untuk menilai perubahan status besi pada pasien thalassemia mayor pasca transfusi dan terapi kelasi.Metode: Desain penelitian kohort prospektif. Subjek penelitian terdiri dari 35 pasien thalassemia mayor usia 7-18 tahun yang mendapat transfusi berulang dan kelator besi rutin. Dilakukan pemeriksaan kadar besi serum, UIBC, TIBC, feritin, transferin, saturasi transferin dan indeks transferin pre transfusi, pasca transfusi dan pasca terapi kelasi.Hasil: Rerata indeks transferin pasca transfusi 124±22 % lebih rendah secara bermakna dari pre transfusi dengan nilai p=0,016, sedangkan pasca kelasi 123 ± 34.5 % (p=0,045). Saturasi transferin pasca transfusi 96 (51 – 100)% meningkat secara bermakna dibangdingkan pre transfusi 87(69-100)% dengan nilai p=0,026, namum tidak berbeda bermakna pada pasca kelasi 87 (39-100). Kadar feritin serum pasca transfusi 3737 (649 -17.094) mg/dL, meningkat secara bermakna dibandingkan pre transfusi 3315 (544,7-14.964) mg/dL (p=0,018). Perbedaan indeks transferin dan saturasi transferin pre transfusi 45(22-153)% lebih tinggi secara bermakna dibandingkan pasca transfusi 35(6-89)% dengan nilai p=0,000, sedangkan pasca kelasi adalah 41±25 dengan nilai p=0,036.Kesimpulan: pemeriksaan indeks transferin untuk pemantauan efektifitas terapi kelasi pada pasien thalasemia mayor dapat dipertimbangkan.

---

ABSTRACTIntroduction. β thalassemia syndromes are a group of hereditary disorder characterized by genetic deficiency in the synthesis of β-globin chains. It is associated in severe anemia caused by an increase in ineffective erythropoiesis activity and hemolysis. Erythropoiesis activity will spur increased iron absorption in the intestine so there will be an excess of iron in the body. Blood transfusion is used routinely to treat anemia arising in patients with thalassemia major. Repeated transfusion will accelerate occur secondary iron overload, to solve given chelation therapy routine.Objective :To know the index value changes transferrin, transferrin saturation, and ferritin before and after transfusion and also before and after chelation therapy in patients with thalassemia major. To know difference transferrin index and transferrin saturation, and ferritin as a parameter to assess changes iron status in patients thalassemia major post-transfusion and chelation therapy.Methods. This was prosphective cohort, There were 35 patients with thalassemia major who receive repeated transfusions and iron kelator routine, with age 7-18 years. Examination of serum iron levels, UIBC, TIBC, ferritin, transferrin, transferrin saturation and transferrin index before transfusion, after transfusion, and after chelation therapy.Results. Mean transferrin index post-transfusion 124±22% was significantly lower than pre transfusion (p=0.016), as well as post-chelation 123±34.5% with a value of p=0.045. Transferrin saturation post-transfusion 96 (51-100)% increased significantly with pre transfusion 87 (69-100)% with a value of p=0.026, However no significant difference were observed in post chelation therapy 87 (39-100). Post-transfusion serum ferritin level 3737 (649-17094) mg/dL, increased significantly compared to pre transfusion 3315 (544.7-14,964) mg/dL (p=0.018). Differences transferrin index and transferrin saturation pre transfusion was 45 (22-153)% significantly higher than the post-transfusion 35 (6-89)% with a value of p=0.000, while the post chelation thyrapy was 41±25% (p=0.036).Conclusion. Transferrin index can be considered for monitoring the effectiveness of chelation therapy in patients with thalassemia major."

"Transferin merupakan salah satu faktor yang berperan penting dalam transportasi zat besi dalam darah dan dapat mampu menyebabkan ikan nila (Oreochromis niloticus) hidup pada rentang salinitas yang cukup besar. Penelitian bertujuan merekonstruksi primer PCR spesifik untuk gen transferin pada ikan nila (Oreochromis niloticus). Gen transferin yang diuji berasal dari 10 strain ikan nila yang mewakili populasi ikan nila di Indonesia. Hasil PCR gen transferin ikan nila strain GESIT, Red Nifi, dan Selfam kemudian diklona dan disekuensing. Sekuen DNA yang didapatkan dihomologikan dengan sekuen gen transferin yang terdapat pada gene bank. Hasil homologi menunjukkan adanya daerah yang conserved sebesar 83 pb. Primer didesain untuk mengamplifikasi fragmen gen transferin tersebut. Hasil penelitian menunjukkan bahwa primer TrfNF dan TrfNR mampu mengamplifikasi gen transferin dari 10 strain ikan nila. ......Transferrin is one of many factors that makes Nile Tilapia fish (Oreochromis niloticus) can live in very wide salinity range. The purpose of this research is to reconstruct specific primer for transferrin gene in Nile tilapia fish (Oreochromis niloticus). The transferrin gene was taken from 10 variant of Nile Tilapia fish which represent the population of Nile Tilapia fish in Indonesia. The result from amplification process of transferrin gene from Nile Tilapia variant GESIT, Red Nifi, and Selfam was cloned and was sequenced. The result of sequencing process was arranged to find the conserved region. The conserved region has found and the size is 83 bp. PCR primer was designed to amplify transferrin gene fragmen. The result of this research is TrfNF primer and TrfNR primer can amplify transferrin gene from 10 variant Nile Tilapia fish."

"Pendahuluan : Muatan besi berlebih merupakan masalah utama pada pasien thalassemia beta bergantung transfusi karena menyebabkan toksisitas pada jaringan atau organ. Laporan mengenai korelasi antara muatan besi berlebih dengan fungsi endokrin pada pasien dewasa TDT beta yang mengalami retardasi pertumbuhan di Indonesia belum pernah dilaporkan.Tujuan: Mendapatkan profil muatan besi dengan fungsi endokrin pada pasien dewasa TDT beta yang mengalami retardasi pertumbuhan.Metode: Dilakukan studi potong lintang pada pasien thalassemia beta mayor homozigot dan beta HbE usia dewasa yang mendapat transfusi darah di Poliklinik Thalassemia RSCM Jakarta pada Desember 2017. Muatan besi berlebih diwakili oleh feritin serum FS dan saturasi transferin ST, fungsi endokrin yang diperiksa adalah TSHs, fT4, dan IGF-1. FS, fT4 dan TSHs diperiksa dengan metode ELISA. IGF-1 diperiksa berdasarkan metode Solid-Phase ECLIA.Hasil: Proporsi hipotiroid subklinis sebesar 32,7 , kadar IGF-1 rendah pada 79,3 subjek penelitian. Terdapat korelasi negatif lemah FS dengan fT4 r = -0,361; p=0,003 , dan IGF-1 r=-0,313; p=0,008 , tidak terdapat korelasi FS dengan kadar TSHs r=0,074; p=0,29 . Tidak terdapat korelasi ST dengan TSHs r =0,003; p=0,492 , fT4 r=0,018; p=0,448 , dan IGF-1 r=-0,142; p=0,143.Simpulan: Terdapat korelasi negatif antara muatan besi berlebih yang dinilai dari feritin serum dengan fungsi endokrin yang dinilai dengan fT4 dan IGF-1.

---

Introduction. Iron overload is a major problem in patients with transfusion dependent beta thalassemia, because it causes toxicity to tissues or organs. The correlation between iron overload and endocrine function in adult TDT beta patients in Indonesia have not been reported.This study aims to obtain a profile of iron load and endocrine function of adult TDT beta patients with growth retardation.Methods Cross sectional study was performed on beta homozygous beta and adult HbE beta patients receiving blood transfusions at the Thalassemia Kiara RSCM Jakarta Clinic, December 2017. Iron overload was represented by serum ferritin FS and transferrin saturation ST, and the endocrine functions are TSHs, fT4 by ELISA method and IGF 1 by the Solid Phase ECLIA method.Results Subclinical hypothyroid proportion was 32,7 and low IGF 1 level was found in 79.3 of subjects. There is a weak negative correlation between FS and fT4 r 0.361 p 0.003, and IGF 1 r 0.313 p 0.008 . No correlation was found between ST with TSHs r 0,003 p 0,492, fT4 r 0,018 p 0,448, and IGF 1 r 0,142 p 0,143.Conclusion There was negative correlation between iron overload based on serum ferritin with endocrine function based on fT4 and IGF 1."

"ABSTRAKLatar belakang: Thalassemia merupakan suatu penyakit gen tunggal yang disebabkan oleh kerusakan pada gen dalam mengontrol produksi protein sehingga sel darah merah akan mudah pecah dan pengikatan oksigen terganggu. Hal ini akan memicu terjadinya anemia dan membutuhkan transfusi darah secara rutin dan seumur hidup. Transfusi darah rutin menyebabkan terjadinya akumulasi besi yang memicu beberapa komplikasi, salah satunya adalah gangguan pada fungsi pankreas. Tujuan: Untuk mengetahui hubungan antara profil besi dengan gangguan fungsi pankreas berupa diabetes mellitus dan gangguan toleransi glukosa pada subjek thalassemia mayor. Metode: Desain potong-lintang pada 79 subjek thalassemia mayor di Pusat Thalassemia RS Cipto Mangunkusumo Jakarta. Hasil: Dua 2,53 subjek mengalami gangguan toleransi glukosa dan 77 97,47 subjek dengan nilai toleransi glukosa normal. Nilai median feritin serum pada kelompok gangguan toleransi glukosa yakni 5595,5 2062,0-9199,0 ng/mL sedangkan yang tidak mengalami gangguan toleransi glukosa yakni 3309,0 487,0-11247,0 ng/mL p= 0,574 . Nilai median saturasi transferin pada subjek gangguan toleransi glukosa yakni 76 52-100 sedangkan yang tidak mengalami gangguan toleransi glukosa yakni 89 11-100 p= 0,827 . Kesimpulan: Tidak didapatkan adanya hubungan yang signifikan antara kadar feritin serum dan saturasi transferin terhadap gangguan fungsi pankreas.

---

ABSTRACTBackground Thalassemia is a single gene disease that is caused by defect on gene which controls the protein production that eventually leads to red blood cell lysis and defect on oxygen binding capacity. Therefore, the patient needs regular blood transfusion during his lifetime. Regular blood transfusion causes iron accumulation that leads to complications such as defect on pancreas function. Aim To know the association between iron profile and defect on pancreas function such as diabetes mellitus and glucose intolerance in major thallassemia subjects. Methods Cross sectional design on 79 major thalassemia subjects in Thalassemia Center of RS Cipto Mangunkusumo, Jakarta. Results Two 2.53 subjects were glucose intolerant and 77 97,47 subject has a normal blood glucose. Median value of serum ferritin level in glucose intolerant subjects was 5595.5 2062,0 9199,0 ng mL meanwhile the median value of serum ferritin level in normal glucose level subjects was 3309.0 487,0 11247,0 ng mL p 0.574 . The median value of transferrin saturation in glucose intolerant patients is 76 52 100 meanwhile the median value of tranferrin saturation level in normal glucose level subjects is 89 11 100 p 0,827 . Conclusion There is no significant association between serum ferritin level and transferrin saturation and defect of pancreas function."

"Latar belakang: Sindrom nefrotik (SN) idiopatik merupakan penyakit glomerulus dengan proteinuria akibat peningkatan permeabilitas glomerulus. Transferin merupakan salah satu protein yang keluar di urin dan dapat mengganggu homeostasis besi. Keadaan ini dapat menyebabkan defisiensi besi dan anemia defisiensi besi (ADB). Tujuan: Mengetahui perbedaan status besi, transferin urin, proporsi defisiensi besi dan ADB pada pasien SN idiopatik aktif dan remisi. Metode: Penelitian potong lintang pada pasien SN idiopatik aktif dan remisi usia 1-18 tahun di RSCM. Pengukuran status besi menggunakan Hb,MCV, MCH, Ret-He, SI, TIBC, ferritin, dan saturasi transferin. Pengukuran transferin urin menggunakan metode enzyme-linked immunosorbent assay (ELISA). Hasil: Terdapat 65 subyek, dengan 32 pasien SN idiopatik aktif dan 33 pasien remisi. Kadar SI antara kelompok aktif dan remisi adalah 60,7±33,5 µg/dL dan 84,6±35,3 µg/dL (p<0,05). Kadar TIBC antara kelompok aktif dan remisi adalah 220±90,7 µg/dL dan 309,4(±47,7) µg/dL (p<0,05). Kadar transferin urin antara kelompok aktif dan remisi adalah 435,3(7,7-478,4) ng/mL dan 23,4 (0-358) ng/mL (p<0,05). Proporsi defisiensi besi dan ADB pada kelompok aktif adalah 7(21,9%) dan 5 (15,6%) subyek, sedangkan pada kelompok remisi adalah 4(12,6%) dan 1(3%) subyek. Perbedaan proporsi tersebut tidak bermakna (p=0,04; RR 2,47; IK95% 0,98-6,23). Kesimpulan: Kelompok SN idiopatik aktif memiliki nilai SI dan TIBC yang rendah serta transferin urin yang tinggi. Proporsi defisiensi besi dan ADB pada kelompok SN idiopatik aktif lebih tinggi walaupun tidak bermakna secara statistik.......Background: Idiopathic nephrotic syndrome (NS) is a common glomerular disease in children, which cause increased glomerular permeability resulting in proteinuria. Transferrin is one of the protein that is excreted in the urin, thus disturbing iron homeostasis and may lead to iron deficiency (ID) or iron deficiency anemia (IDA). Objective: To know the differences in iron status, urinary transferrin, and the proportion of ID and IDA in children with active and remission idiopathic NS. Methods: A cross-sectional design study was conducted on patients with active and remission idiopathic NS aged 1-18 years at RSCM. Measurement of iron status using Hb, MCV, MCH, Ret-He, SI, TIBC, ferritin, and transferrin saturation. Measurement of urinary transferrin using enzyme-linked immunosorbent assay (ELISA). Result: There were 65 study subjects, with 32 patients with active idiopathic NS and 33 subjects were in remission.The SI levels between the active and remission groups were 60.7±33.5 g/dL and 84.6±35.3 g/dL (p<0.05). The TIBC levels between the active and remission groups were 220±90.7 g/dL and 309.4(±47.7) g/dL (p<0.05). The median of urinary transferrin levels between the active and remission groups were 435.3(7.7-478.4) ng/mL and 23.4 (0-358) ng/mL (p<0.05). The proportions of ID and IDA in the active group were 7(21.9%) and 5(15.6%) subjects, while in the remission group were 4(12.6%) and 1(3%) subjects. Nonetheless the difference were not statistically significant (p=0.04; RR 2.47; CI95% 0.98-6.23). Conclusion. Active idiopathic NS had significant lower values of SI and TIBC, and higher urinary transferrin levels. The proportion of ID and IDA in the active group was higher, although not significant."