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Although the inherited hemoglobin disorders were the first genetic diseases to be explored at the molecular level, they still have important messages for the future of medical genetics. In particular, they can offer a better understanding of the evolutionary and population biology of genetic disease, the mechanisms that underlie the phenotypic diversity of monogenic disease, and how, by developing appropriate partnerships, richer countries can help low-income countries to evolve programs for the control and management of these diseases where, in many cases, they are particularly common.

Original publication

DOI

10.1146/annurev-genom-091212-153500

Type

Journal article

Journal

Annu Rev Genomics Hum Genet

Publication Date

2013

Volume

14

Pages

1 - 24

Keywords

Genetics, Medical, Genetics, Population, Hemoglobinopathies, Hemoglobins, Humans