Molecular Genetics of Thalassemia Syndromes

Molecular Genetics of Thalassemia Syndromes
Author :
Publisher :
Total Pages : 57
Release :
ISBN-10 : 1615047247
ISBN-13 : 9781615047246
Rating : 4/5 (47 Downloads)

Book Synopsis Molecular Genetics of Thalassemia Syndromes by : Reena Das

Download or read book Molecular Genetics of Thalassemia Syndromes written by Reena Das and published by . This book was released on 2016-08 with total page 57 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 [beta]-globin mutations (commonly point mutations) are detected by using ARMS-PCR, reverse dot-blot analysis and [beta]-globin gene sequencing. Globally>300 [beta] 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 identities common [alpha]-globin gene deletions. Specific PCR across the junction caused by the unequal crossing over can detect [alpha]-gene triplication. However, heterozygosity or homozygous triplication cannot be resolved by this technique. Non-deletional [alpha]-thalassemia can be characterized by specific [alpha]-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.


Molecular Genetics of Thalassemia Syndromes Related Books

Molecular Genetics of Thalassemia Syndromes
Language: en
Pages: 57
Authors: Reena Das
Categories: Science
Type: BOOK - Published: 2016-08 - Publisher:

DOWNLOAD EBOOK

This book reviews the molecular genetics of the thalassemia syndromes, inherited hemoglobin disorders that comprise the commonest monogenic disorders globally.
The Thalassaemia Syndromes
Language: en
Pages: 864
Authors: David J. Weatherall
Categories: Medical
Type: BOOK - Published: 2008-04-30 - Publisher: John Wiley & Sons

DOWNLOAD EBOOK

In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular patholo
Cardiovascular Genetics and Genomics
Language: en
Pages: 921
Authors: Dhavendra Kumar
Categories: Medical
Type: BOOK - Published: 2018-01-17 - Publisher: Springer

DOWNLOAD EBOOK

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular gen
Disorders of Hemoglobin
Language: en
Pages: 883
Authors: Martin H. Steinberg
Categories: Medical
Type: BOOK - Published: 2009-08-17 - Publisher: Cambridge University Press

DOWNLOAD EBOOK

Completely revised new edition of the definitive reference on disorders of hemoglobin.
Prevention of Thalassaemias and Other Haemoglobin Disorders
Language: en
Pages: 190
Authors: Galanello Renzo
Categories:
Type: BOOK - Published: 2003 - Publisher:

DOWNLOAD EBOOK

Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a descr