The genetics of blood disorders: hereditary hemoglobinopathies

Abstract

Objective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and beta-thalassemias, the most relevant hereditary hemoglobinopathies in the global population.

Sources: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and beta-thalassemia. Two books and two chapters were also included.

Summary of the findings: More than 2,000 articles were identified; those providing the most important information and broadest views were selected.

Conclusions: Morbidity and mortality rates from sickle cell diseases and beta-thalassemia are still very high and represent an important challenge. Increased understanding of pathophysiological aspects has lead to significant improvements in treatment and prevention of these diseases.