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Diagnosis and Management of Beta-Thalassemia.
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- Additional Information
- Abstract:
المقال يركز على تشخيص وإدارة الثلاسيميا بيتا، وهو اضطراب وراثي في الهيموغلوبين يتميز بانخفاض أو غياب تخليق سلسلة بيتا-غلوبين. يؤكد على أهمية التشخيص المبكر من خلال المؤشرات الدموية والتقنيات الجزيئية لتوجيه العلاج ومنع المضاعفات مثل زيادة الحديد واختلال وظائف الأعضاء. تناقش المراجعة استراتيجيات إدارة متنوعة، بما في ذلك العلاج بنقل الدم على المدى الطويل، وعلاج الحديد، والنهج العلاجية الناشئة مثل زراعة خلايا الدم الجذعية والعلاج الجيني. كما تسلط الضوء على الحاجة إلى رعاية متعددة التخصصات والبحث المستمر لتحسين الوصول إلى العلاجات وتنفيذ برامج فحص فعالة للثلاسيميا بيتا. [Extracted from the article]
- Abstract:
Background: beta-thalassemia(ß-thalassemia) is a hereditary hemoglobinopathy characterized by reduced or absent ß-globin chain synthesis, leading to variable clinical severity ranging from the asymptomatic carrier state to transfusion-dependent thalassemia major. Early diagnosis through hematological indices, hemoglobin analysis, and molecular techniques is critical for guiding management and preventing long-term complications such as iron overload, growth failure, bone deformities, and organ dysfunction. Recent advancements in transfusion protocols, iron chelation therapy, and imaging modalities have significantly improved patient outcomes. Curative approaches including hematopoietic stem cell transplantation (HSCT) and emerging genebased therapies represent promising strategies for long-term disease control. Objectives: This review summarizes current approaches to diagnosis and management of ß-thalassemia, based on current literature and international guidelines. Conclusions: Although ß-thalassemia remains a major public health challenge in high-prevalence regions, modern diagnostic tools, optimized transfusion and chelation regimens, and expanding curative options continue to enhance survival and quality of life. Multidisciplinary care involving hematologists, pediatricians, radiologists, and genetic specialists is essential. Ongoing research should focus on improving access to curative therapies and implementing effective national screening programs. [ABSTRACT FROM AUTHOR]
- Abstract:
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