Hb Chapel Hill 或 Alpha2 74(EF3) Asp>Gly，一种在一个中国家庭中发现的轻度不稳定变异体。
Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.
机构信息
Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, People's Republic of China.
出版信息
Hematology. 2023 Dec;28(1):2187154. doi: 10.1080/16078454.2023.2187154.
BACKGROUND
Hb Chapel Hill [Alpha2 74(EF3) Asp > Gly] results from an GAC > GGC substitution at codon 74 of the HBA1 or HBA2 genes. Hb Chapel Hill has not been reported since 1986.
METHODS
A heterozygous mutation, HBA2: c.224A > G, was identified in the proband, her father and sister. We compared the haematological and clinical data of this family with the data reported in the limited number of individuals.
RESULTS
Having excluded iron deficiency, the Hb Chapel Hill was asymptomatic in heterozygous state. The cases presented here characterize cases in new techniques including capillary electrophoresis (CE). Two aberrant peaks were identified by CE, a major peak migrating in the zone 7 that correspond to Hb Chapel Hill (α β) and a minor peak migrating in the zone 1 that correspond to Hb Chapel Hill2 (α δ). Focusing on the variant expression, the Hb Chapel Hill plus Hb A2 variant were around 18.9-20.6% of total Hb in three members.
CONCLUSION
This data will be useful for providing up-to-date and high quality information on the Hb Chapel Hill.
背景
Hb Chapel Hill [Alpha2 74(EF3) Asp>Gly] 是由于 HBA1 或 HBA2 基因的密码子 74 处 GAC>GGC 取代所致。自 1986 年以来，尚未报道过 Hb Chapel Hill。
方法
在先证者、她的父亲和姐姐中发现了杂合突变 HBA2：c.224A>G。我们将这个家系的血液学和临床数据与有限数量个体的报告数据进行了比较。
结果
排除缺铁后，杂合状态下的 Hb Chapel Hill 无症状。这里介绍的病例用新的技术进行了表征，包括毛细管电泳 (CE)。CE 鉴定出两个异常峰，一个主要峰在 7 区迁移，对应于 Hb Chapel Hill（αβ），一个次要峰在 1 区迁移，对应于 Hb Chapel Hill2（αδ）。关注变异表达，在三个成员中，Hb Chapel Hill 加上 Hb A2 变异约占总 Hb 的 18.9-20.6%。
结论
这些数据将有助于提供有关 Hb Chapel Hill 的最新和高质量信息。
Zotero 插件