Abstract

SONATI, Maria de Fátima  and  COSTA, Fernando Ferreira. The genetics of blood disorders: hereditary hemoglobinopathies. J. Pediatr. (Rio J.) [online]. 2008, vol.84, n.4, suppl., pp. S40-S51. ISSN 0021-7557.  http://dx.doi.org/10.1590/S0021-75572008000500007.

OBJECTIVE: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-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 β-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 β-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.

Keywords : Hereditary hemoglobinopathies; sickle cell diseases; β-thalassemia.