Tubman Venée N, Bennett Carolyn M, Luo Hong-yuan, Chui David H K, Heeney Matthew M
Department of Medicine, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
Pediatr Blood Cancer. 2007 Aug;49(2):207-10. doi: 10.1002/pbc.21269.
Sickle hemoglobin (Hb S;betaGlu 6 Val) is due to an A>T transversion in codon 6 of the beta-globin gene. Other variant hemoglobins mimic Hb A, S, or C on newborn screening and clinical laboratory diagnostic tools, thus making their correct identification potentially difficult. Sickling disorders can result in individuals who are compound heterozygous for beta-globin mutations (e.g., Hb SC, HbSO(Arab)). The authors report a second case of HbS/Québec-CHORI, a severe compound heterozygous sickling disorder and their experience managing this patient with hydroxyurea.
镰状血红蛋白（Hb S；β-谷氨酸6缬氨酸）是由于β-珠蛋白基因第6密码子发生A>T颠换所致。其他变异血红蛋白在新生儿筛查和临床实验室诊断工具上与Hb A、S或C相似，因此其正确识别可能存在困难。镰状细胞疾病可导致个体为β-珠蛋白突变的复合杂合子（例如，Hb SC、HbSO（阿拉伯型））。作者报告了第二例HbS/魁北克-CHORI病例，这是一种严重的复合杂合子镰状细胞疾病以及他们使用羟基脲治疗该患者的经验。
