Hemoglobin in the balance

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Science  23 Apr 2021:
Vol. 372, Issue 6540, pp. 357-358
DOI: 10.1126/science.372.6540.357-b

The inherited blood disorder β-thalassemia is caused by loss-of-function mutations in β-globin, a key component of adult hemoglobin. In addition to impaired oxygen delivery caused by the deficiency of β-globin, patients with severe forms of β-thalassemia suffer from a toxic buildup of excess α-globin, which normally pairs with β-globin. Cromer et al. developed a gene-editing strategy that addresses both problems at once by replacing one of the two α-globin genes with β-globin, allowing cells to produce fully functional adult hemoglobin and maintain a balance between the key globin types. The authors applied their gene-editing technique to hematopoietic stem cells from human patients with β-thalassemia, and then successfully engrafted the edited cells into mouse models.

Nat. Med. 10.1038/s41591-021-01284-y (2021).

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