The genetics of blood disorders: hereditary hemoglobinopathies

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.

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.

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

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.