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Article Abstract
Sickle cell disease (SCD) is a common, life-threatening group of disorders caused by missense mutations in the b-globin gene (HBB). Mouse models have helped to elucidate the most common form of SCD (HbSS, homozygous p.Glu6Val) and develop new therapies. In contrast, a lack of animal models has restricted research on the second most common form of SCD (HbSC, p.Glu6Val/p.Glu6Lys). We used CRISPR genome engineering to generate HbSC alleles in the Townes mouse strain, which harbors human a- and b-globin genes in place of the mouse counterparts. Compared to Townes HbSS mice, HbSC mice exhibited signature pathologies that distinguish HbSC disease in humans.
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| http://dx.doi.org/10.1182/bloodadvances.2025016793 | DOI Listing |
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