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Molecular Genetics of Thalassemia Syndromes (Paperback)
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Molecular Genetics of Thalassemia Syndromes (Paperback)
Series: Colloquium Series on Genomic and Molecular Medicine
Expected to ship within 10 - 15 working days
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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 -globin
mutations (commonly point mutations) are detected by using
ARMS-PCR, reverse dot-blot analysis and -globin gene sequencing.
Globally >300 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 -globin gene
deletions. Specific PCR across the junction caused by the unequal
crossing over can detect -gene triplication. However,
heterozygosity or homozygous triplication cannot be resolved by
this technique. Non-deletional -thalassemia can be characterized by
specific -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.
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