Newborn Screening for α-Thalassemia — Keeping Up with Globalization

Thalassemias are inherited disorders of hemoglobin synthesis. In α-thalassemia, the biosynthesis of the α-globin subunit of adult hemoglobin, hemoglobin A, is deficient. In β-thalassemia, β-globin synthesis is diminished. 1 Among the most common single-gene disorders in humans, thalassemias are a ca...

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Veröffentlicht in:The New England journal of medicine 2011-02, Vol.364 (8), p.770-771
1. Verfasser: Benz, Edward J
Format: Artikel
Sprache:eng
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Zusammenfassung:Thalassemias are inherited disorders of hemoglobin synthesis. In α-thalassemia, the biosynthesis of the α-globin subunit of adult hemoglobin, hemoglobin A, is deficient. In β-thalassemia, β-globin synthesis is diminished. 1 Among the most common single-gene disorders in humans, thalassemias are a cause of substantial morbidity and mortality in Asia and the Mediterranean basin. 2 Symptomatic thalassemia has historically been an uncommon illness in the United States. However, as Lal et al. report in this issue of the Journal, 3 a moderately severe symptomatic form of α-thalassemia, hemoglobin H (HbH) disease, is being encountered with increasing frequency as Asian migration increases to the West Coast . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMe1013338