Disorder of Hemoglobin Genetics, Pathophysiology, and Clinical Management
Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs, David J. Weatherall.
ISBN-13 978-0-511-59618-6 [ebook]
Cambridge University Press
To date, more than 1,000 hemoglobin variants have been discovered and characterized. Study of these variants, so amply documented in this book, established the principle of how a mutant genotype alters the function of the protein it encodes, which in turn can lead to a distinct clinical phenotype..