How I treat thalassemia

Abstract

The purpose of this article is to set forth our approach to diagnosing and managing the thalassemias, including ␤-thalassemia intermedia and ␤-thalassemia major. The article begins by briefly describing recent advances in our understanding of the pathophysiology of thalassemia. In the discussion on diagnosing the condition, we cover the development of improved diagnostic tools, including the use of very small fetal DNA samples to detect single point mutations with great reliability for prenatal diagnosis of homozygous thalassemia. In our description of treatment strategies, we focus on how we deal with clinical manifestations and longterm complications using the most effective current treatment methods for ␤-thalassemia. The discussion of disease management focuses on our use of transfusion therapy and the newly developed oral iron chelators, deferiprone and deferasirox. We also deal with splenectomy and how we manage endocrinopathies and cardiac complications. In addition, we describe our use of hematopoietic stem cell transplantation, which has produced cure rates as high as 97%, and the use of cord blood transplantation. Finally, we briefly touch on therapies that might be effective in the near future, including new fetal hemoglobin inducers and gene therapy. (Blood. 2011;118(13):3479-3488)

Hemopexin counteracts systolic dysfunction induced by heme-driven oxidative stress

“…In fact, heart disease is the primary determinant of prognosis and survival in hemolytic disorders [18,68]. In β-thalassemia patients, cardiac complications represent the primary cause of mortality and one of the major causes of morbidity [18,68].…”

Novel Βeta (β)-Thalassemia Mutation in Turkish Children

“…b-Thal intermedia clinically differs from major and minor ones with respect to necessity of transfusion. The degree of anemia for b-Thal major is more aggravated than the grade of anemia for bThal intermedia [5,8]. The genotype of b-Thal intermedia is mostly homozygotes or compound heterozygotes [6].…”

“…b-Thal major is characterized by completely inhibited synthesis of beta chains [4] so b-Thal major must be treated (generally transfusion therapy) otherwise 85 % of patients die in early childhood due to severe anemia [5]. b-Thal major phenotype has homozygotes or compound heterozygotes for b o or b ?…”

Orodental Considerations in Thalassemia Patients

“…A differential diagnosis must be made to distinguish patients with α-thalassemia from those with iron deficiency anemia. No specific treatment is required for patients with silent carriers unless the patient is anemic [7].…”