血红蛋白哈默史密斯[β42（CD1）苯丙氨酸→丝氨酸]：在患有多种先天性异常的黑人单卵双胞胎中作为新发突变出现。
Hb Hammersmith [beta 42(CD1) Phe-->Ser]: occurrence as a de novo mutation in black monozygotic twins with multiple congenital anomalies.
作者信息
Tuohy A M, McKie V C, Sabio H, Kutlar F, Kutlar A, Wilson J B
机构信息
Department of Pediatric Hematology/Oncology, Medical College of Georgia, Augusta 30912, USA.
出版信息
J Pediatr Hematol Oncol. 1998 Nov-Dec;20(6):563-6. doi: 10.1097/00043426-199811000-00013.
PURPOSE
To present the occurrence of Hb Hammersmith as a de novo mutation in African-American twins with multiple congenital anomalies.
METHODS
Standard hematologic methods were used. The presence of an unstable Hb variant was confirmed by brilliant cresyl blue staining and an isopropanol stability test. Hb Hammersmith was confirmed by the sequencing of polymerase chain reaction-amplified beta-globin gene.
RESULTS
The presence of Hb Hammersmith was confirmed in female monozygotic twins of African-American origin with congenital Heinz body hemolytic anemia and multiple congenital anomalies. The variant occurred as a de novo mutation in the twins.
CONCLUSION
This report describes the occurrence of Hb Hammersmith [B42(CD1)Phe-->Ser] in African-American twins. As with the other reported cases, both twins were female. In addition to Heinz body hemolytic anemia, a low arterial O2 saturation in the proposita was shown by pulse oximetry. Multiple congenital anomalies involving various systems were also found in both twins.
目的
报道在患有多种先天性异常的非裔美国双胞胎中出现的新发突变——血红蛋白哈默史密斯（Hb Hammersmith）。
方法
采用标准血液学方法。通过煌焦油蓝染色和异丙醇稳定性试验确认不稳定血红蛋白变异体的存在。通过聚合酶链反应扩增的β-珠蛋白基因测序确认血红蛋白哈默史密斯。
结果
在患有先天性海因茨小体溶血性贫血和多种先天性异常的非裔美国女性单卵双胞胎中确认存在血红蛋白哈默史密斯。该变异体在双胞胎中为新发突变。
结论
本报告描述了非裔美国双胞胎中血红蛋白哈默史密斯[B42(CD1)苯丙氨酸→丝氨酸]的出现情况。与其他报道的病例一样，这对双胞胎均为女性。除了海因茨小体溶血性贫血外，先证者经脉搏血氧测定显示动脉血氧饱和度低。在这对双胞胎中还发现了涉及多个系统的多种先天性异常。
Zotero 插件