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Genetics and Genomics in Clinical Hematology, II: Inherited Disorders of Hemoglobin 

Genetics and Genomics in Clinical Hematology, II: Inherited Disorders of Hemoglobin
Chapter:
Genetics and Genomics in Clinical Hematology, II: Inherited Disorders of Hemoglobin
Author(s):

Sir David J. Weatherall

DOI:
10.1093/med/9780199896028.003.0026
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date: 29 May 2020

The inherited disorders of haemoglobin are by far the commonest single gene disorders. It is currently estimated that between 300,000 and 400,000 babies are born each year with one of these disorders, the bulk of the births being in the low- or middle-income countries. Because the high frequency of these conditions reflects heterozygote resistance to malaria, a high frequency of consanguinity in many of the countries in which the disease is common, and the epidemiological transition whereby improved nutrition and public health facilities are allowing more affected babies to survive to come for diagnosis and treatment. It seems likely that the birth rate of these conditions will continue to expand for the foreseeable future. Here, I shall review briefly what is known about the molecular pathology, pathophysiology, clinical features and approaches to prevention and management of the inherited haemoglobin disorders and then define the questions that remain in this field and how they might be approached by more recent technology derived from genomics.

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