The thalassemias and related disorders

Abstract

The thalassemias, sickle cell disease, and other hemoglobinopathies represent a major group of inherited disorders of hemoglobin synthesis. The abnormal hemoglobins were reviewed in the July 2006 issue of Baylor University Medical Center Proceedings. Because of immigration patterns and population flow, these disorders are becoming increasingly more prevalent in the USA. In this article, the clinical aspects of the more common thalassemia syndromes are reviewed. For most symptomatic patients with thalassemia, there is no definite cure; only supportive management of the anemia is possible. A very limited number of patients with thalassemia may be cured by bone marrow transplantation from HLA-identical donors. Other tentative approaches to management include stimulation of fetal hemoglobin synthesis and attempts at somatic cell gene therapy. Prevention of disease transmission by carrier screening programs along with prenatal diagnosis remain of paramount importance in the reduction of these diseases worldwide.

Figure

Developmental changes in human globin chain production, sites of erythropoiesis, and cell morphology. Reprinted with permission from Wood WG, 1993 (9).