Patterson Margie, Walker Lynda, Eng Barry, Waye John S
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Hemoglobin. 2005;29(4):293-5. doi: 10.1080/03630260500311651.
We describe a case of Hb S/beta-thalassemia (thal) involving a 468 bp deletion that removes the beta-globin gene promoter but leaves the coding regions intact. This is the second report of this deletion, and our family study establishes that this deletion causes beta0-thal with unusually high levels of Hb A2 and Hb F. As with other genotypes involving deletions of the 5' region of the beta-globin gene, our patient had a mild form of Hb S/beta-thal.
我们描述了一例血红蛋白S/β地中海贫血（β地贫）病例，该病例存在一个468 bp的缺失，该缺失去除了β珠蛋白基因启动子，但编码区保持完整。这是该缺失的第二篇报道，我们的家系研究证实，此缺失导致β0地贫，伴有异常高水平的血红蛋白A2和血红蛋白F。与其他涉及β珠蛋白基因5'区域缺失的基因型一样，我们的患者患有轻度形式的血红蛋白S/β地贫。
