Molecular Genetics of Thalassemia Syndromes

Molecular Genetics of Thalassemia Syndromes

Reena Das, Prashant Sharma
ISBN: 9781615047246 | PDF ISBN: 9781615047253
Copyright © 2016 | 56 Pages | Publication Date: August, 2016

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This 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.

Table of Contents

Introduction to Normal Hemoglobin and Globin Genes
Classification and Genetics of the Thalassemias
Alpha Thalassemia
Molecular Genetics of Thalassemia Intermedia: Genotype-Phenotype Correlation
Author Biographies

About the Author(s)

Reena Das, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Reena Das received an MBBS degree from Jabalpur in 1989 and M.D. in pathology from the Postgraduate Institute of Medical Education and Research, Chandigarh, India in 1992. After completing her Senior Residency in 1996, she joined the faculty in hematology at the Postgraduate Institute of Medical Education and Research and has been a professor of haematology there since 2009. Her areas of interest include teaching hematology and analyzing molecular genetics of nonmalignant hematological disorders such as thalassemias and hemoglobinopathies, hemophilias, iron overload syndromes, and hereditary spherocytosis. Her passion is the prevention of hematological disorders with a genetic basis by offering prenatal diagnosis. She has 163 publications of which the majority are in peer-reviewed international journals. She has written 7 chapters in books and guided many medical and Ph.D. students in pursuing their research work. Her hobbies include cooking, oil painting, and embroidery.

Prashant Sharma, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Prashant Sharma received his MBBS and M.D. (pathology) from the University of Delhi, India in 2000 and 2004, respectively, followed by a D.M. (hematopathology) from All India Institute of Medical Sciences, New Delhi, India in 2009. After a stint at Delhi's Sir Ganga Ram Hospital, he joined the faculty at the Postgraduate Institute of Medical Education and Research, Chandigarh, India in 2011. He is currently an associate professor in the hematology department there. Prashant has 82 PubMed-indexed papers and 3 chapters in books. His research interests include design and testing of innovative diagnostic tests, hematology laboratory instrumentation, and molecular diagnostics as applied to the hemolytic and nutritional anemias and hemostasis/thrombosis. He is an associate editor of the Indian Journal of Hematology and Blood Transfusion and serves on the editorial boards of the BMJ Case Reports and the
World Journal of Methodology. In his spare time, Prashant is a long-distance runner who enjoys reading, travel, and good food.


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. The authors have also briefly touched upon the issues of laboratory confirmation of these disorders as well as their preventive strategies. The quality of the book has been enhanced by the efficient use of schematic diagrams, tables and pictures of a range of molecular tests performed in clinical cases. It provides an overview of the latest molecular diagnostic approach to thalassemia syndromes; however the details of the molecular techniques have not been included, probably due to the short-format of the book. So, the readers will get an overview of the topic in this book and can be used as a supplement to the other available detailed reference books. The vast clinical experience of the authors has enriched the content of the book with the common mutations detected in the Indian sub-continent being highlighted. This book will be useful for trainee students, research scholars and practicing Pathologists, especially Hematopathologists; as well as Clinical Hematologists; Pediatricians; Medical Geneticists and Molecular Biologists.
Dr Sanjeev Kumar Gupta - All India Institute of Medical Sciences

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