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The Molecular Genetics of Thalassemia

descriptionPublicationkeyboard_double_arrow_right Part of book or chapter of book , Article 01 Jan 1980Publisher:Springer US

Authors: David G. Nathan; David G. Nathan; Stuart H. Orkin; Stuart H. Orkin;

doi: 10.1007/978-1-4615-8303-5_4 , 10.1007/978-1-4684-3575-7_4

pmid: 6267910 , 795479

The Molecular Genetics of Thalassemia

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Abstract

In the past few years analysis of the genetics and disorders of human hemoglobins has undergone a revolution as new research tools have provided the means to obtain long-sought-after answers regarding gene structure and function. Study of human hemoglobins and their disorders, particularly the thalassemia syndromes, is at the forefront of the interaction of new genetic technology and medicine. It offers the promise of understanding an entire class of diseases at the molecular level in detail totally unforeseen just a short time ago. In this review we will attempt to summarize recent approaches and findings in this rapidly moving area and illustrate how these studies may provide important models for the analysis of other human diseases.

Related Organizations

Harvard University
United States
Boston Children's Hospital
United States

Keywords

Heterozygote, Polymorphism, Genetic, Genotype, Base Sequence, Hemoglobins, Abnormal, Chromosome Mapping, DNA, DNA Restriction Enzymes, Globins, Hemoglobins, Phenotype, Gene Expression Regulation, Genes, Pregnancy, Protein Biosynthesis, Prenatal Diagnosis, Humans, Thalassemia, Female, RNA, Messenger

Impact byBIP!

	citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	10
	popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.	Average
	influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	Top 10%
	impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.	Average