Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2013 Jun;98(6):833-44.
doi: 10.3324/haematol.2012.066845.

Non-transfusion-dependent thalassemias

Khaled M Musallam  1 , Stefano Rivella, Elliott Vichinsky, Eliezer A Rachmilewitz
Affiliations
Review

Non-transfusion-dependent thalassemias

Khaled M Musallam et al. Haematologica. 2013 Jun.

Abstract

Non-transfusion-dependent thalassemias include a variety of phenotypes that, unlike patients with beta (β)-thalassemia major, do not require regular transfusion therapy for survival. The most commonly investigated forms are β-thalassemia intermedia, hemoglobin E/β-thalassemia, and α-thalassemia intermedia (hemoglobin H disease). However, transfusion-independence in such patients is not without side effects. Ineffective erythropoiesis and peripheral hemolysis, the hallmarks of disease process, lead to a variety of subsequent pathophysiologies including iron overload and hypercoagulability that ultimately lead to a number of serious clinical morbidities. Thus, prompt and accurate diagnosis of non-transfusion-dependent thalassemia is essential to ensure early intervention. Although several management options are currently available, the need to develop more novel therapeutics is justified by recent advances in our understanding of the mechanisms of disease. Such efforts require wide international collaboration, especially since non-transfusion-dependent thalassemias are no longer bound to low- and middle-income countries but have spread to large multiethnic cities in Europe and the Americas due to continued migration.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Transfusion requirement in various thalassemia forms.
Figure 2.
Figure 2.
Pathophysiological mechanisms and clinical complications in non-transfusion dependent thalassemias.
Figure 3.
Figure 3.
Differences in common clinical complications profile between non-transfusion-dependent thalassemias compared to regularly transfused β-thalassemia major patients. The figure illustrates those complications that are often observed at a higher prevalence in one group over the other in available studies and clinical settings, although all mentioned complications can exist in both entities at varying rates.
Figure 4.
Figure 4.
Factors contributing to a hypercoagulable state and subsequent thrombotic events in non-transfusion dependent thalassemias. RBC: red blood cells.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Weatherall DJ, Clegg JB. The thalassaemia syndromes. 4th ed Oxford: Blackwell Science; 2001
    1. Rachmilewitz EA, Giardina PJ. How I treat thalassemia. Blood. 2011;118(13):3479–88 - PubMed
    1. Weatherall DJ. The definition and epidemiology of non-transfusion-dependent thalassemia. Blood Rev. 2012;(26 Suppl 1):S3–6 - PubMed
    1. Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331–6 - PMC - PubMed
    1. Michlitsch J, Azimi M, Hoppe C, Walters MC, Lubin B, Lorey F, et al. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer. 2009;52(4): 486–90 - PMC - PubMed