Universitas Syiah Kuala | ELECTRONIC THESES AND DISSERTATION

Electronic Theses and Dissertation

Universitas Syiah Kuala

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NADIATON SAFANA, GAMBARAN FRAKSI HB DENGAN PEMERIKSAAN ELEKTOFORESIS PADA PASIEN TALASEMIA DI RSUD DR. ZAINOEL ABIDIN BANDA ACEH. Banda Aceh Fakultas Kedokteran,2022

Talasemia adalah penyakit herediter berupa gangguan sintesis hemoglobin yang terjadi akibat mutasi gen globin yang ditandai dengan anemia. diagnosis talasemia ditegakkan berdasarkan informasi klinis dan hasil pemeriksaan laboratorium, termasuk pemeriksaan darah perifer lengkap, status zat besi, radiologi, analisis fraksi hb, atau pemeriksaan molekuler. beberapa penelitian sebelumnya menyebutkan bahwa terdapat keberagaman fenotipe talasemia dan tak jarang terjadi kombinasi talasemia dengan hemoglobinopati lainnya, seperti hbe. hal ini dapat diketahui salah satunya melalui gambaran fraksi hb pasien talasemia yang dapat diperiksa menggunakan elektroforesis hb. oleh karena itu, penelitian ini bertujuan untuk mengetahui gambaran fraksi hb menggunakan pemeriksaan elektroforesis hb pada pasien talasemia di rsud dr. zainoel abidin banda aceh. jenis penelitian ini adalah deskriptif dengan rancangan penelitian cross sectional menggunakan data restrospektif yang diperolah dari rekam medik pasien dan hasil elektroforesis hb yang diperiksa menggunakan alat elektroforesis kapiler di laboratorium patologi klinik rsudza. sampel penelitian ini adalah seluruh pasien talasemia yang telah didiagnosis oleh dokter spesialis anak selama tahun 2018-2021 dan memiliki hasil pemeriksaan elektroforesis hb yang pertama kali dilakukan di rsudza, yaitu sebanyak 134 pasien. data hasil penelitian ini menunjukkan bahwa hasil elektroforesis hb pasien talasemia memperlihatkan gambaran yang sangat beragam sehingga hasil elektroforesis dikelompokkan dalam beberapa kesan berdasarkan jenis rantai globin yang mungkin mengalami mutasi dan berdasarkan hb varian yang ditemukan, yaitu normal, normal + hbc, talasemia α, talasemia α + hbc, talasemia α + hbcs dan hbe, talasemia β, talasemia β + hbe, talasemia β + hbs, talasemia β + hbe dan hbj, serta talasemia β + hbs dan hbe. hb varian lain yang ditemukan yaitu hbh dan hb bart’s yang digolongkan kedalam kesan talasemia α. kata kunci: talasemia, fraksi hb, analisis hb, elektroforesis hb



Abstract

Thalassemia is a hereditary disease in the form of impaired hemoglobin synthesis that occurs due to mutations in the globin gene which is characterized by anemia. The diagnosis of thalassemia requires clinical information and laboratory results, including complete blood count, iron status, radiology examination, Hb analysis, or molecular study. Previous studies have stated that there is a wide array of thalassemia phenotypes and there is common for interactions of thalassemia with other hemoglobinopathies, such as HbE. This can be known, one of which is through the description of the Hb fraction of thalassemia patients which can be examined using Hb electrophoresis. Therefore, this study aims to determine the description of the Hb pattern using Hb electrophoresis in thalassemia patients at regional general hospital/RSUD dr. Zainoel Abidin Banda Aceh. This type of research is descriptive with a cross sectional research design using retrospective data obtained from patient medical records and Hb electrophoresis results were examined using capillary electrophoresis in the Clinical Pathology Laboratory of RSUDZA. The sample of this study were all thalassemia patients who had been diagnosed by pediatricians during 2018-2021 and had Hb electrophoresis results which was first performed at Clinical Pathology Laboratory of RSUDZA, which were 134 patients. The data results showed a wide array of thalassemia patients’s hemoglobin electrophoresis, as such the results of electrophoresis are grouped into several impressions based on the type of globin chain that may have mutations and based on the Hb variants found, namely normal, normal + HbC, α-thalassemia, α-thalassemia + HbC, α-thalassemia + HbCS and HbE, β-thalassemia, β-thalassemia + HbE, β-thalassemia + HbS, β-thalassemia + HbE and HbJ, and β-thalassemia + HbS and HbE. Other Hb variants found were HbH and Hb Bart's which were classified as α-thalassemia. Keywords: Thalassemia, Hb Pattern, Hb Analysis, Hemoglobin Electrophoresis.



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