Angka Kejadian Β-Thalassemia Trait pada Mahasiswa yang Melakukan Pemeriksaan Kesehatan dengan Menggunakan Elektroforesis Kapiler di RSUP Haji Adam Malik Medan

Abstract

Background: Thalassemia is a genetic disorder disease spread in different parts of the world, including in Indonesia, because Indonesia located in the thalassemia belt area. The incidence of β-thalassemia trait in Southeast Asia varies between 2.2% -16%, in Indonesia between 3% -8%. Prevention of thalassemia can be done by educating, carrier screening, premarital genetic counseling and prenatal diagnosis. Objective: To obtain the incidence of β-thalassemia trait in students that conduct medical check-up using microcapilarry electrophoresis, to describe the characteristics of the subjects according to age, gender, ethnicity, as well as to obtain an average value of MCV, MCH and HbA2. Material and methods: This study is an observational study with cross-sectional method, which is carried out at the Department of Clinical Pathology Haji Adam Malik Hospital in Medan, from July to September 2012, the number of subjects in this study was 559 person. Examination includes FBC (full Blood count) to get a microcytic hypochromic sample (MCV <80 fl, MCH <27 pg), then a quantification of HbA2 from microcytic hypochromic sample is done using microcapilarry electrophoresis. Results: From 559 samples 33.21% are male and 66.78% female, with an average age of 19.25 ± 0.25 years, the percentage based on tribe are Bataknesse 57.78%, Javanesse 15.74% , Acehnesse 10.73, Malay 9.12%, Karonesse 3.93%, Padangnesse 2.32% and Nias 0.35%. On the results of hematological indices, hypochromic mikrositer found in 50 subjects, with an average 71.63 ± 7.68 for MCV and 23.27 ± 2.85for MCH, from the quantification of HbA2 in mikrositer hypochromic subject we found 10 β thalassemia trait subject (1.8%) with an average of HbA2 (4.34 ± 0.25) , MCV (62.66 ± 3.41), and MCH (20.11 ± 2.18) and also found 4 hemoglobin E subjects (0.7%). Conclusion: A research has been done on 559 students with the incidence of β-Thalassemia Trait is 1.8% (10 person) and an average of HbA2quantification 4.34 ± 0.25.

Latar belakang: Penyakit Thalassemia merupakan kelainan genetik yang tersebar di belahan Dunia termasuk di Indonesia, karena Indonesia termasuk dalam daerah sabuk Thalassemia (Thalassemia Belt). Angka kejadian β-thalassemia trait di Asia Tenggara bervariasi berkisar antara 2,2%-16% di Indonesia antara 3%-8%. Pencegahan thalassemia dapat berupa edukasi, skrining carier, konseling genetika pranikah dan diagnosis pranatal. Tujuan: Untuk mendapatkan angka kejadian β-thalassemia trait pada mahasiswa yang melakukan pemeriksaan kesehatan dengan menggunakan mikrokapiler elektroforesis, dengan menggambarkan karakteristik subjek menurut umur, jenis kelamin, suku, serta untuk mendapatkan nilai rata-rata MCV, MCH dan HbA2. Materi dan metode: Penelitian ini merupakan penelitian observational dengan metode potong lintang, yang dilakukan di Departemen Patologi Klinik RSUP Haji Adam Malik Medan, pada bulan Juli s/d September 2012, jumlah subjek penelitian 559. Pemeriksaan meliputi FBC (full Blood count) untuk mendapatkan sampel mikrositer hipokrom (MCV<80 fl, MCH<27 pg), kemudian dilakukan pemeriksaan kuantitasi HbA2 pada sampel mikrositer hipokrom dengan menggunakan metode mikrokapiler elektroforesis. Hasil: Dari 559 sampel, dijumpai lelaki 33,21%, perempuan 66,78%, rata-rata umur 19,25  0,25 tahun, dengan persentase berdasarkan suku yaitu suku Batak 57,78%, Jawa 15,74%, Aceh 10,73, Melayu 9,12%, Karo 3,93%, Padang 2,32% dan suku Nias 0,35%. Pada hasil pemeriksaan indeks hematologi, dijumpai 50 subjek mikrositer hipokrom, dengan rata-rata MCV 71,63±7,68 dan MCH 23,27±2,85, dari hasil pemeriksaan kuantitasi HbA2 pada subjek mikrositer hipokrom dijumpai 10 subjek dengan nilai rata-rata HbA2 (4,34 ± 0,25) yang merupakan suatu β-thalassemia trait (1,8 %) dengan rata-rata MCV (62,66 ± 3,41), MCH (20,11 ± 2,18) dan juga dijumpai 4 subjek hemoglobin E (0,7% ). Kesimpulan: Telah dilakukan penelitian pada 559 orang mahasiswa dan ditemukan angka kejadian β-Thalassemia Trait 1,8% (10 orang) dengan rata-rata kadar HbA2 4,34 ± 0,25.