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OverviewThis book reviews the molecular genetics of the thalassemia syndromes, inherited hemoglobin disorders that comprise the commonest monogenic disorders globally. Thalassemias are found in high frequencies in tropical regions corresponding to the malaria belt. Beta thalassemia traits show high HbA2 by HPLC, and β-globin mutations (commonly point mutations) are detected by using ARMS-PCR, reverse dot-blot analysis and β-globin gene sequencing. Globally >300 β globin gene mutations exist, however regional mutations are limited to 5-6 common ones. Alpha globin gene defects can only be identified by molecular tests, the exception being HbH disease that shows """"golf ball"""" appearance in HbH preparation, pre-integration peaks on HPLC and a fast-moving band on hemoglobin electrophoresis. Multiplex Gap-PCR identifies common α-globin gene deletions. Specific PCR across the junction caused by the unequal crossing over can detect α-gene triplication. However, heterozygosity or homozygous triplication cannot be resolved by this technique. Non-deletional α-thalassemia can be characterized by specific α-globin gene sequencing. Identification of unusual deletions requires Multiplex Ligation-dependent Probe Amplification. In conclusion, the molecular characterization of human globin gene disorders is required to resolve the phenotypically heterogeneous thalassemia syndromes. Molecular analysis is also an important tool to prevent these disorders by offering prenatal screening in regions with a high disease burden. Full Product DetailsAuthor: Reena Das , Prashant SharmaPublisher: Morgan & Claypool Publishers Imprint: Morgan & Claypool Publishers Dimensions: Width: 19.10cm , Height: 0.30cm , Length: 23.50cm Weight: 0.333kg ISBN: 9781615047246ISBN 10: 1615047247 Pages: 57 Publication Date: 30 August 2016 Audience: Professional and scholarly , Professional & Vocational Format: Paperback Publisher's Status: Active Availability: In stock We have confirmation that this item is in stock with the supplier. It will be ordered in for you and dispatched immediately. Table of ContentsReviews"""This book reviews the complex topic of molecular genetics of alpha and beta thalassemia syndromes in a very lucid style. The intricate mechanisms responsible for the vast genetic as well as phenotypic heterogeneity of thalassemia syndromes have been divided in sub-sections for a better understanding and clinical correlation."" - Dr. Sanjeev Kumar Gupta, All India Institute of Medical Sciences" This book reviews the complex topic of molecular genetics of alpha and beta thalassemia syndromes in a very lucid style. The intricate mechanisms responsible for the vast genetic as well as phenotypic heterogeneity of thalassemia syndromes have been divided in sub-sections for a better understanding and clinical correlation. - Dr. Sanjeev Kumar Gupta, All India Institute of Medical Sciences Author InformationPostgraduate Institute of Medical Education and Research, Chandigarh, India|Postgraduate Institute of Medical Education and Research, Chandigarh, India Tab Content 6Author Website:Countries AvailableAll regions |