Ancestral β-globin gene haplotypes modify β-thalassemia severity in a mouse model

Christophe Lechauve,Julia Keith,Alfonso G. Fernandez,Eugene Khandros,Kalin Mayberry,Thiyagaraj Mayuranathan,Lance Palmer, Xiaohui Qiu,Heather Sheppard,Rahul Telange, Hans-Martin Herz,Mitchell J. Weiss

Blood Advances（2024）

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摘要

β-Thalassemia is a prevalent anemia caused by mutations in the HBB (β-globin) gene. We show that the severity of β-thalassemia in the frequently studied Hbbth3/+ mouse model is influenced by ancestral β-globin gene (Hbb) haplotypes that differ in common strains.

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