Non-transfusion-dependent thalassemia and thalassemia intermedia: epidemiology, complications, and management

Abstract

Objective:

The non-transfusion-dependent thalassemias (NTDTs), including thalassemia intermedia (TI), hemoglobin E beta thalassemia, and hemoglobin H disease, have sometimes been regarded as less severe than their transfusion-dependent variants; however, these disorders carry a substantial disease burden (e.g., splenomegaly, iron overload, skeletal effects, and cardiopulmonary disease). The aim of this review is to increase clinician awareness of the growing global problem of NTDT and TI, and discuss the current management strategies for these conditions.

Methods:

Recent peer-reviewed articles (publication years 2000 through 2015) addressing the epidemiology, complications, management, and monitoring of NTDT were identified in the PubMed database and reviewed.

Results:

The changing epidemiology of thalassemia constitutes a growing health problem. Increased clinician awareness is necessary for the appropriate diagnosis and management of patients with NTDT.

Conclusions:

Management of NTDT requires a comprehensive approach, beginning with screening and prenatal diagnosis, monitoring for iron overload and associated complications, and iron chelation therapy. Several novel strategies are in the early stages of investigation and may help increase treatment options in patients with NTDT. Importantly, ethnic or cultural barriers may exist within the affected populations and need to be considered in the management approach.

Keywords: :

• Iron chelation therapy
• Iron overload
• Non-transfusion-dependent thalassemia
• Thalassemia intermedia

Transparency

Declaration of funding

Editorial assistance for this review was funded by Novartis Pharmaceuticals Corporation. E.V. was responsible for all content and editorial decisions of the manuscript and received no honoraria related to its development.

Declaration of financial/other relationships

E.V. received no funding related to the development of this manuscript. He has disclosed that he has received grants from the Centers for Disease Control and Prevention and the National Heart, Lung, and Blood Institute; and grants and personal fees from Novartis Pharmaceuticals Corporation for other work. He has also been a speaker for both Novartis Pharmaceuticals Corporation and ApoPharma.

Acknowledgments

We thank Jennifer Lee PhD of Phase Five Communications for medical editorial assistance with this manuscript. Financial support for medical editorial assistance was provided by Novartis Pharmaceuticals Corporation.