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All Journal Medula Termometer: Jurnal Ilmiah Ilmu Kesehatan Dan Kedokteran Journal Medical Informatics Technology Jurnal Anestesi: Jurnal Ilmu Kesehatan dan Kedokteran Jurnal Riset Multidisiplin Edukasi JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia Jurnal Agromedicine Unila: Jurnal Kesehatan dan Agromedicine
Anisa Nuraisa Jausal
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Computer Science & IT Dentistry Education Engineering Health Professions Medicine & Pharmacology Neuroscience Nursing Physics Public Health Other

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Journal : medula

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Perkembangan Strategi Pengobatan β-Thalassemia Komang Ria Yuliana Santhi; Putu Ristyaning Ayu Sangging; Anisa Nuraisa Jausal; Helmi Ismunandar
Medula Vol 15 No 4 (2025): Medula
Publisher : CV. Jasa Sukses Abadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.53089/medula.v15i4.1663

Abstract

β-thalassemia is an inherited blood disorder caused by mutations in the β-globin gene that reduce or eliminate β-globin chain synthesis, leading to hypochromic microcytic anemia and significant morbidity worldwide. The disorder is prevalent in South Asia, Southeast Asia, the Mediterranean, the Middle East, India, and Africa, with approximately 1.5% of the global population identified as carriers. Severe complications, including iron overload, skeletal deformities, heart failure, and multi-organ damage, contribute to its substantial global health burden. This narrative literature review synthesizes evidence from PubMed, Cochrane, and Google Scholar to examine conventional and emerging therapeutic strategies for β-thalassemia, with particular emphasis on recent advances in gene therapy. Standard management relies on regular blood transfusions and iron chelation, which remain supportive and are associated with long-term complications. Hematopoietic stem cell transplantation is the only established curative treatment, especially effective in pediatric patients with matched HLA donors, although its availability is limited. Novel pharmacologic agents, such as luspatercept and mitapivat, have demonstrated reductions in transfusion requirements and improvements in hemoglobin production. Additional approaches, including fetal hemoglobin induction and modulation of iron metabolism, show encouraging potential. A major breakthrough is CRISPR-based gene therapy using exagamglogene autotemcel (Casgevy), approved by the FDA and EMA in 2024, with phase 3 trials reporting transfusion independence in more than 90% of patients and significant quality-of-life improvements. Despite persistent challenges related to cost, access, and long-term safety, these advances indicate a paradigm shift toward precision medicine with curative potential for β-thalassemia.
Hubungan Disfungsi Endotel dengan Preeklamsia Gejala Pemberat Angelie Cahya Putri; Nurul Islamy; Anisa Nuraisa Jausal; Suharmanto Suharmanto
Medula Vol 16 No 3 (2026): Medula
Publisher : CV. Jasa Sukses Abadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.53089/medula.v16i3.1777

Abstract

Preeclampsia with severe features is a major pregnancy complication contributing substantially to maternal and perinatal morbidity and mortality worldwide. This condition primarily arises from impaired placentation that leads to placental hypoperfusion and the release of anti-angiogenic factors such as sFlt-1 and soluble endoglin, which suppress pro-angiogenic activity of VEGF and PlGF, ultimately triggering systemic endothelial dysfunction. This review aims to analyze the relationship between endothelial dysfunction and the pathophysiological mechanisms of severe preeclampsia through current scientific literature. A narrative literature review was conducted, examining clinical and molecular studies related to angiogenesis, oxidative stress, inflammation, and biomarkers influencing disease progression. The findings indicate that angiogenic imbalance, increased oxidative stress, inflammatory activation, and hemodynamic alterations are key drivers of endothelial injury, resulting in hypertension, proteinuria, edema, and multi-organ involvement. Additionally, the sFlt-1/PlGF ratio is identified as a strong predictor of disease severity and progression toward severe preeclampsia. The discussion highlights that deeper understanding of endothelial mechanisms provides promising pathways for developing early screening tools and targeted therapeutic strategies. Thus, endothelial dysfunction represents a central component in the pathogenesis of severe preeclampsia and remains critical for improving detection and clinical management.
Co-Authors Ahmad Fauzi Alvina Christy Maretta Angelie Cahya Putri Ari Wahyuni Dian Isti Angraini Helmi Ismunandar Hendra Tarigan Sibero Hendri Busman Komang Ria Yuliana Santhi Muhammad Arbyanka Diontama Muhammad Fauzan Iqbal Nurul Islamy Pinkan Ahdalifa Putra, Ruchpy Cahya Rika Lisiswanti Rodiani Sangging, Putu Ristyaning Ayu Sugeng Dwi Hastono Suharmanto Sutarto TA Larasati Tarigan, Gladys Ametha Waluyo Rudiyanto Wayan Swari Dharma Patni Winda Trijayanthi Utama, Winda Trijayanthi