<![CDATA[ABSTRACT Thalassemia is a genetic disease characterized by abnormalities in hemoglobin production. One variant frequently found in Southeast Asia is Hemoglobin E (HbE). HbE screening is important for early detection and prevention of thalassemia. The purpose of this study was to determine the presence of HbE gene mutations in female students in the Medical Laboratory Technology Study Program at the Santa Elisabeth College of Health Sciences, Medan, using electrophoresis. This quantitative descriptive study employed a purposive sampling technique in 27 female students. Hemoglobin levels were measured using Hb strips, followed by DNA isolation, PCR amplification, and analysis using agarose gel electrophoresis. Seventy-four percent of respondents had Hb levels below normal. Electrophoresis results showed unclear DNA bands, making it impossible to confirm the presence of HbE gene mutations. This is suspected to be due to errors in reagent concentration and pipetting technique. The majority of female students had low Hb levels, but electrophoresis results could not confirm the presence of HbE gene mutations. Further research with optimal laboratory techniques and a larger sample size is needed. Keywords: Thalassemia, Hemoglobin E, Electrophoresis, Genetic Screening ABSTRAK Thalassemia merupakan penyakit genetik yang ditandai dengan kelainan produksi hemoglobin. Salah satu varian yang sering ditemukan di Asia Tenggara adalah Hemoglobin E (HbE). Skrining HbE penting dilakukan sebagai upaya deteksi dini dan pencegahan thalassemia. Tujuan mengetahui adanya mutasi gen HbE pada mahasiswi Program Studi Teknologi Laboratorium Medik STIKes Santa Elisabeth Medan menggunakan metode elektroforesis. Penelitian ini bersifat deskriptif kuantitatif dengan teknik purposive sampling pada 27 mahasiswi. Pemeriksaan kadar hemoglobin dilakukan menggunakan strip Hb, dilanjutkan isolasi DNA, amplifikasi dengan PCR, dan analisis menggunakan elektroforesis gel agarosa. Sebanyak 70,4% responden memiliki kadar Hb di bawah normal. Hasil elektroforesis menunjukkan pita DNA tidak tampak jelas sehingga tidak dapat dipastikan adanya mutasi gen HbE. Hal ini diduga akibat kesalahan konsentrasi reagen dan teknik pemipetan. Mayoritas mahasiswi memiliki kadar Hb rendah, namun hasil elektroforesis tidak dapat mengonfirmasi keberadaan mutasi gen HbE. Perlu dilakukan penelitian lebih lanjut dengan optimasi teknik laboratorium dan jumlah sampel lebih besar. Kata kunci: Thalassemia, Hemoglobin E, Elektroforesis, Skrining Genetik]]>
