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Review
. 2021 Dec 10;2021(1):607-613.
doi: 10.1182/hematology.2021000296.

Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia

Cheryl Mensah  1 , Sujit Sheth  2
Affiliations
Review

Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia

Cheryl Mensah et al. Hematology Am Soc Hematol Educ Program. .

Abstract

The thalassemias are inherited quantitative disorders of hemoglobin synthesis with a significant worldwide burden, which result in a wide spectrum of disease from the most severe transfusion-dependent form to the mildest asymptomatic carrier state. In this article, we discuss the importance of carrier, prenatal, and newborn screening for thalassemia. We examine the rationale for who should be screened and when, as well as the current methodology for screening. Deficiencies in the newborn screening program are highlighted as well. With the advent of inexpensive and rapid genetic testing, this may be the most practical method of screening in the future, and we review the implications of population-based implementation of this strategy. Finally, a case-based overview of the approach for individuals with the trait as well as prospective parents who have a potential fetal risk of the disease is outlined.

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Conflict of interest statement

Cheryl Mensah has served as a consultant to Bluebird bio and Chiesi. She currently serves on adjudication committee for CRISPR/Vertex for thalassemia.

Sujit Sheth is a consultant to Agios, Bluebird bio, Bristol Myers Squibb, and Chiesi and serves on a clinical trial steering committee for CRISPR/Vertex CTX001 for thalassemia.

Figures

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Graphical abstract
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Graphical abstract
Figure 1.
Figure 1.
Thalassemia syndromes. Adapted from Sheth and Thein.
Figure 2.
Figure 2.
Thalassemia distribution map showing prevalence of thalassemia syndromes.
Figure 3.
Figure 3.
Ideal algorithm for thalassemia screening, developed to screen for thalassemia syndromes in adults based on history, physical examination, and laboratory parameters.
See this image and copyright information in PMC

References

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