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26 - Population Genetics and Global Health Burden

from SECTION SEVEN - SPECIAL TOPICS IN HEMOGLOBINOPATHIES

Published online by Cambridge University Press:  03 May 2010

Martin H. Steinberg ,
Bernard G. Forget ,
Douglas R. Higgs  and
David J. Weatherall
By
David J. Weatherall  and
Thomas N. Williams
Martin H. Steinberg
Affiliation:
Boston University
Bernard G. Forget
Affiliation:
Yale University, Connecticut
Douglas R. Higgs
Affiliation:
MRC Institute of Molecular Medicine, University of Oxford
David J. Weatherall
Affiliation:
Albert Einstein College of Medicine, New York
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Summary

It is now widely accepted that the hemoglobinopathies are the most common monogenic diseases in humans. In this chapter we discuss the possible reasons for their very high frequency and uneven distribution among the world's population and describe recent attempts to determine their global health burden and how this might be managed.

FREQUENCY AND DISTRIBUTION

Frequency

A number of attempts have been made to review or determine the global frequency and annual birth rates of homozygotes or compound heterozygotes for the important inherited disorders of hemoglobin. Composite data from these reports for the frequency and distribution by World Health Organization (WHO) regions are summarized in Table 26.1 and similar data for the estimated annual birth rate of severe forms of hemoglobinopathy are summarized in Figure 26.1. As we will discuss later in this chapter, such summaries are based on imperfect data and should be viewed with some caution; nevertheless, it is now generally acknowledged that as a group the hemoglobinopathies represent the most common monogenic diseases of humans.

Any explanation for the extremely high gene frequencies of the inherited disorders of hemoglobin must take into account a number of unusual features about their world distribution. The high-frequency regions stretch across the tropical belt of the Old World or areas into which there has been a high rate of migration from this region.

Type
Chapter
Information
Disorders of Hemoglobin
Genetics, Pathophysiology, and Clinical Management
 , pp. 625 - 637
Publisher: Cambridge University Press
Print publication year: 2009

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