一种β-地中海贫血诊断标志物及其应用

本发明公开了一种β‑地中海贫血诊断标志物及其应用，其中，所述β‑地中海贫血诊断标志物为HSPA1B基因甲基化。本发明首次发现了HSPA1B基因甲基化在β‑地中海贫血患者中的差异表达，通过检测所述HSPA1B基因甲基化水平，可以判断受试者是否患有β‑地中海贫血，为β‑地中海贫血的早期诊断提供分子手段。

The invention discloses a beta-thalassemia diagnosis marker and application thereof, and the beta-thalassemia diagnosis marker is HSPA1B gene methylation. According to the invention, differential expression of HSPA1B gene methylation in beta-thalassemia patients is found for the first time, whether a subject suffers from beta-thalassemia or not can be judged by detecting the HSPA1B gene methylation level, and a molecular means is provided for early diagnosis of beta-thalassemia.