Insights in Thalassemia: From Genomics to Clinical Practice

Download or read book Insights in Thalassemia: From Genomics to Clinical Practice written by Zarina Abdul Latiff and published by Frontiers Media SA. This book was released on 2024-02-23 with total page 90 pages. Available in PDF, EPUB and Kindle. Book excerpt: IN LOVING MEMORY of Dr. Zarina Abdul Latiff. Thalassemia is a genetically heterogenous group of hemoglobinopathy disorders, characterised by imbalanced production of the α-globin or β-globin subunits of hemoglobin. Although the causative genotype is a key determinant of disease severity, the clinical spectrum and phenotype are affected by secondary and tertiary genetic modifiers. The public health and clinical burden of the disease is apparent with 1.5% of the global population being carriers and an estimated 400,000 affected births annually, with the majority in lower-middle-income countries. Although diagnostics and clinical management have evolved over the last decade, there is still much to be addressed in terms prevention, utility of molecular diagnostics, treatment outcome and quality of life.