Hutt P J, Fairbanks V F, Griffin T C, Thibodeau S N, Green M M, Hoyer J D
Department of Laboratory Medicine and Pathology Mayo Clinic, Rochester, MN 55905, USA.
Hemoglobin. 1996 Nov;20(4):371-6. doi: 10.3109/03630269609005841.
Approximately 700 hemoglobin variants have been reported, causing a variety of clinical manifestations, with the majority being clinically silent. We report a new hemoglobin variant, Hb Cook, that was found in combination with Hb E in a child of Thai origin. DNA sequencing of the beta-globin gene showed that the mutation is AAA-->ACA in codon 132, corresponding to beta 132 (H10)Lys-->Thr.
据报道，约有700种血红蛋白变体，可导致多种临床表现，其中大多数在临床上无明显症状。我们报告了一种新的血红蛋白变体Hb Cook，它是在一名泰国裔儿童中与Hb E同时被发现的。β-珠蛋白基因的DNA测序显示，该突变位于密码子132，由AAA→ACA，对应于β132（H10）位赖氨酸→苏氨酸。
