Iswari Setianingsih
Lembaga Biologi Molekuler Eijkman Jakarta

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Hubungan antara Tipe Mutasi Gen Globin dan Manifestasi Klinis Penderita Talasemia

Jurnal Kedokteran Brawijaya Vol 26, No 1 (2010)
Publisher : Fakultas Kedokteran Universitas Brawijaya

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Abstract

ABSTRAKThalassemia β di populasi umum  mempunyai manifestasi klinis  yang sangat bervariasi mulai dari thalassemia ringan sampai berat. Penentuan  jenis  mutasi adalah penting  karena pengetahuan tentang tipe mutasi yang mendasari thalassemia-β diperlukan dalam pengelolaan pasien. Penelitian ini bertujuan untuk menilai hubungan antara  tipe mutasi dengan manifestasi klinis penderita thalassemia. Penelitian ini merupakan penelitian observasional kohort prospective dilaksanakan di Unit Transfusi Darah  (UTD PMI Kota Semarang mulai bulan Januari 2006-Desember 2009. Sampel menggunakan 38 pasien thalassemia  yang dipilih secara purposive sampling dari penderita thalassemia β yang menerima transfusi. Variabel penelitian adalah jenis mutasi gen globin , manifestasi klinis, status gizi, dan kadar Hb sebelum dan sesudah transfusi. Pengukuran kadar Hb dilakukan sebelum transfusi ke-1, setelah transfusi ke-1 dan sebelum transfusi ke-22. Analisis statistik menggunakan uji  dan uji Fisher-exact. Rerata umur subyek penelitian adalah 10,1 ± 3,26 tahun, laki-laki sebesar  16 orang (42,1%) dan perempuan 22 orang (57,9%). Jenis mutasi adalah HbE/ivsnt1-nt5 (55,3%), ivs1-nt5 dan HbE CD35 (masing-masing 13,2%), HbE/ivs1-nt1 (7,9%), dan ivs5-nt1/ivs1, ivs1-nt1/ivs1-nt1, HbE/CD41-42 dan exon 1-2 normal (masing-masing 2,6%). Manifestasi klinis derajat sedang 65,8% dan berat 34,2%. Hasil uji statistik menunjukkan hubungan tidak bermakna antara jenis mutasi dengan manifestasi klinis thalassemia (p=0,5). Jenis tipe mutasi gen globin  tidak berhubungan dengan derajat manifestasi klinis thalassemia.Kata kunci : Manifestasi klinis, talasemia , tipe mutasi

Hubungan antara Stres Oksidatif dengan Kadar Hemoglobin pada Penderita Thalassemia/Hbe

Jurnal Kedokteran Brawijaya Vol 27, No 1 (2012)
Publisher : Fakultas Kedokteran Universitas Brawijaya

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Abstract

Pemberian  transfusi  darah  kronik  pada  penderita  thalassemia  dapat   menyebabkan  kelebihan  kadar  besi.  Kelebihan  kadar besi  bebas  dalam  tubuh  akan  memacu  timbulnya  oksidan  berupa  reactive  oxygen  species   (ROS)  yang  diukur  dalam  bentuk malondialdehide  (MDA).  Peningkatan  produksi  ROS  dapat  menyebabkan  kerusakan  membran  sel  yang  mengandung senyawa lipid    termasuk eritrosit. T ujuan penelitian ini  adalah untuk menilai hubungan antara kadar MDA serum dengan kadar Hb penderita thalassemia. Metode penelitian ini  adalah penelitian observasional kohort prospective dilaksanakan di  UTD  PMI  Kota  Semarang.  Selama  bulan  Januari  2006  sampai  dengan  Desember  2009  dijumpai  32  penderita  thalassemia/HbE.  Variabel  penelitian kadar Hb dan MDA   serum.  Pengukuran dilakukan sebelum  transfusi  ke-1, setelah transfusi  ke-1 dan sebelum transfusi  ke-2. Analisis statistik menggunakan uji Mann-Whitney,  uji Wilcoxon  dan uji korelasi Spearman. Rerata  umur  subjek  penelitian  adalah  9,5±  3,13  tahun,  laki-laki  adalah  25  orang  (46,9%)  dan  perempuan  17  orang  (53,1%). Status  gizi  43,8  %  termasuk  gizi  kurang.  Kadar  MDA   kelompok   Hb  sebelum  transfusi  ke-2  8  g/dL  2,89±0,451  dan  kelompok Hb  >8  g/dL  2,19±0,792  (p=0,01).  Ada  korelasi  negatif  antara  Hb  sebelum  transfusi  ke-2  dengan  MDA  (r=min  0,52;  p=0,002). Dapat  disimpulkan  ada  korelasi  negatif  antara  kadar  MDA  serum  dengan  kadar  Hb  pada  penderita  thalassemia  /HbE. Kata  Kunci:  Hemoglobin,  MDA,  stres  oksidatif ,  thalassemia  /HbE

Applicability of a clinical scoring criteria for disease severity of ß-thalassemia/hemoglobin E in Indonesia

Medical Journal of Indonesia Vol 27, No 1 (2018): March
Publisher : Faculty of Medicine Universitas Indonesia

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Abstract

Background: β-thalassemia/HbE presents with a variety of clinical symptoms, from asymptomatic to severe, requiring routine transfusion. However, there is currently no agreed classification system to stratify patients based on clinical severity of β-thalassemia/HbE in the Indonesian population. Thailand has already established a classification system, and this study aimed to identify the applicability of the Thailand clinical scoring criteria to determine the severity of β-thalassemia/HbE in the Indonesian population.Methods: This descriptive study was conducted by evaluating patients with β-thalassemia/HbE, who were classified into mild, moderate, or severe groups based on the Thailand clinical scoring criteria.Results: A total of 293 subjects with β-thalassemia/HbE were included. Based on this clinical scoring criteria, it was found that only 21.5% of patients were classified as mild, and the remaining 35.5% and 44% were classified as moderate and severe respectively. Approximately 68.2% of the subjects in the severe group received transfusion at <4 years old, while only 10% of those in the mild group were transfused at the same age. In the mild group, only 10% of the subjects underwent routine transfusion, compared to 98.4% of the subjects in the severe group. In addition, only 27% of the subjects in the mild group showed stunted growth, while that in the moderate and severe groups were 54.5% and 86.8%, respectively.Conclusion: Thailand clinical scoring criteria is able to determine the severity of Indonesia thalassemia patient which needs further management, i.e. transfusion and observation of stunted growth. This scoring system will help provide the provision of the most ideal management for the groups of patients based on their requirements.

Clinical features of patients with hemolytic anemia due to red blood cells membrane defect

Paediatrica Indonesiana Vol 46 No 1 (2006): January 2006
Publisher : Indonesian Pediatric Society

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Abstract

Background Hemolytic anemia may result from corpuscular orextracorpuscular abnormalities. One of the types of corpuscularabnormalities is membrane defect. The diagnosis is sometimesdifficult and it may need special hematologic investigations. Thereare no data yet on the clinical features of red blood cell membranedefect in Cipto Mangunkusumo Hospital.Objective To evaluate the clinical features and laboratory find-ings of patients with hemolytic anemia due to red blood cells mem-brane defect in Cipto Mangunkusumo Hospital.Methods This was a descriptive study on patients with red bloodcells membrane defect who came to the Thalassemia Center atCipto Mangunkusumo Hospital during 2002-2004.Results In 2002-2004, there were 241 new cases of hemolyticanemia consisted of 116 patients with beta-thalassemia, 109 withHbE-beta thalassemia, 3 with alpha-thalassemia, and 13 with redblood cells membrane defect. The red cells membrane defect pa-tients consisted of 4 males and 9 females, ranging in age from 1months to 14 years. All subjects came to the hospital due to pale-ness as a chief compaint. Hepato-splenomegaly was found in 5 of13 cases. Laboratory findings revealed hemoglobin level 6.4-13.1g/dl (mean 9.4+2.1 g/dl), MCV 58.4-94.5 fl (mean 81.2+10.2 fl),MCHC 31.7-35.8 g/dl (mean 33.9+1.1g/dl), RDW 15.8-28.4%(mean 20.1+3.6%) and normal hemoglobin electrophoresis. Pe-ripheral blood smear showed anisocytosis, poikilocytosis,spherocytes, ovalocytes, stomatocytes, target cells, and fragmentedcells. The most common diagnosis in this group was SoutheastAsian Ovalocytosis (5/13).Conclusions In facing hemolytic anemia with normal Hb electro-phoresis or normal RBC enzyme level, the possibility of red cellsmembrane defect should be taken into consideration as a causeof this disorder. The clinical features and laboratory findings of redblood cells membrane defect patients are highly variable. Occa-sionally, hematologic investigations are necessary

Hubungan antara Tipe Mutasi Gen Globin dan Manifestasi Klinis Penderita Talasemia

Jurnal Kedokteran Brawijaya Vol 26, No 1 (2010)
Publisher : Fakultas Kedokteran Universitas Brawijaya

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Abstract

ABSTRAKThalassemia β di populasi umum  mempunyai manifestasi klinis  yang sangat bervariasi mulai dari thalassemia ringan sampai berat. Penentuan  jenis  mutasi adalah penting  karena pengetahuan tentang tipe mutasi yang mendasari thalassemia-β diperlukan dalam pengelolaan pasien. Penelitian ini bertujuan untuk menilai hubungan antara  tipe mutasi dengan manifestasi klinis penderita thalassemia. Penelitian ini merupakan penelitian observasional kohort prospective dilaksanakan di Unit Transfusi Darah  (UTD PMI Kota Semarang mulai bulan Januari 2006-Desember 2009. Sampel menggunakan 38 pasien thalassemia  yang dipilih secara purposive sampling dari penderita thalassemia β yang menerima transfusi. Variabel penelitian adalah jenis mutasi gen globin , manifestasi klinis, status gizi, dan kadar Hb sebelum dan sesudah transfusi. Pengukuran kadar Hb dilakukan sebelum transfusi ke-1, setelah transfusi ke-1 dan sebelum transfusi ke-22. Analisis statistik menggunakan uji  dan uji Fisher-exact. Rerata umur subyek penelitian adalah 10,1 ± 3,26 tahun, laki-laki sebesar  16 orang (42,1%) dan perempuan 22 orang (57,9%). Jenis mutasi adalah HbE/ivsnt1-nt5 (55,3%), ivs1-nt5 dan HbE CD35 (masing-masing 13,2%), HbE/ivs1-nt1 (7,9%), dan ivs5-nt1/ivs1, ivs1-nt1/ivs1-nt1, HbE/CD41-42 dan exon 1-2 normal (masing-masing 2,6%). Manifestasi klinis derajat sedang 65,8% dan berat 34,2%. Hasil uji statistik menunjukkan hubungan tidak bermakna antara jenis mutasi dengan manifestasi klinis thalassemia (p=0,5). Jenis tipe mutasi gen globin  tidak berhubungan dengan derajat manifestasi klinis thalassemia.Kata kunci : Manifestasi klinis, talasemia , tipe mutasi

Phenotype and genotype characteristics of Indonesian 21-hydroxylase deficient patients

Paediatrica Indonesiana Vol 47 No 5 (2007): September 2007
Publisher : Indonesian Pediatric Society

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Abstract

Background Congenital adrenal hyperplasia (CAH) is the mostcommon cause of ambiguous genitalia in children and 90-95%cases show 21-hydroxylase deficiency. More than 100 mutationshave been described and of these, four mutations have beenfrequently reported in Asia. Those mutations are deletion/largegene conversion (LGC), intron2 splice mutation (I2 splice), pointmutations at codon 172 (I172N) and codon 356 (R356W).Genotyping is very valuable since close correlation observedbetween genotype and phenotype.Objective To identify phenotype and genotype characteristics ofCAH due to 21-hydroxylase deficiency (CAH-21OH) andcorrelation between them.Methods From June to November 2006 we analyzed 37 confirmedCAH-21OH patients treated at the Department of Child Health,Cipto Mangunkusumo Hospital during the period of 1990-2006.Polymerase chain reaction (PCR) followed by restriction fragmentlength polymorphism (RFLP) analysis or amplification-createdrestriction site (ACRS) were performed. We first identified deletion/LGC and I172N mutation that had been mostly reported in saltwasting (SW) and simple virilizing (SV) form patients respectively.Results There were 37 patients, consisted of 6 males and 31females with the ratio 1:5.2. Of those, 25, 10, 2 patients wereSW, SV and non-classic (NC) form, respectively. PCR-RFLP orACRS was performed to detect two mutations in 32 patients (64alleles). Deletion/LGC was found in 6 alleles while I172Nmutations in two. All deletion alleles showed SW phenotype butI172 mutated alleles showed SW and SV phenotype.Conclusion There is a consistent close association betweengenotype and phenotype in our CAH-21OH patients.

Thalassemia Alfa Mayor dengan Mutasi Non-Delesi Heterozigot Ganda

Sari Pediatri Vol 8, No 3 (2006)
Publisher : Badan Penerbit Ikatan Dokter Anak Indonesia (BP-IDAI)

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Abstract

Seorang anak perempuan berusia 3 tahun dengan gejala klinis anemia berat,hepatosplenomegali, dan memerlukan tranfusi darah teratur. Gejala klinis telah timbulsaat pasien berusia 3 bulan. Hapusan darah tepi menunjukkan gambaran hipokrom,mikrositosis, dan anisopoikilositosis. Kadar HbA2 normal, HbF sedikit meningkat, danterdapat HbBart’s. Ayah dan ibu memiliki gambaran hematologis yang mendekati normal.Analisis DNA menunjukkan dua mutasi non-delesi (mutasi titik) pada gen globin a2yaitu pada kodon 59 (GGCglisin→GACaspartat) dan IVS2-nt142 (AG→AA). Kasus ini adalahkasus pertama yang ditemukan di Departemen Ilmu Kesehatan Anak RS. Dr. CiptoMangunkusumo Jakarta yang mempunyai mutasi heterozigot ganda pada kodon 59 danIVS2-nt142. Gejala klinis thalassemia mayor diakibatkan adanya mutasi kodon 59 yangmenghasilkan varian hemoglobin yang tidak stabil (HbAdana) disertai adanya mutasinon-delesi pada IVS2-nt142 yang menyebabkan proses mRNA yang tidak normal.