Molecular Genetics of Thalassemia Syndromes

This book provides an in-depth exploration of thalassemia syndromes, focusing on their molecular genetics and the methods used for diagnosis and prevention.

The Molecular Genetics of Thalassemia Syndromes delves into the intricate world of inherited hemoglobin disorders, specifically focusing on thalassemias, which are among the most prevalent monogenic disorders worldwide. These conditions are particularly common in tropical regions that align with the malaria belt. The book provides a comprehensive overview of the molecular genetics underlying these syndromes, shedding light on the genetic mutations that contribute to their manifestation.

In Molecular Genetics of Thalassemia Syndromes, the author discusses the high levels of HbA2 observed in beta thalassemia traits through HPLC analysis. The text further explores the various techniques employed to detect β-globin mutations, including ARMS-PCR, reverse dot-blot analysis, and β-globin gene sequencing. While over 300 β-globin gene mutations have been documented globally, the book highlights that only a limited number of regional mutations are commonly observed in specific populations.

Additionally, the book addresses the identification of alpha globin gene defects, which typically require molecular testing for accurate diagnosis. It explains the nuances of detecting conditions such as HbH disease and the methodologies used, including Multiplex Gap-PCR and specific sequencing techniques. Ultimately, Molecular Genetics of Thalassemia Syndromes emphasizes the critical role of molecular characterization in understanding these disorders and advocates for prenatal screening in high-burden areas to mitigate their impact.