• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

一个马来家庭中血红蛋白AC杂合子状态的鉴定:血红蛋白电泳与高效液相色谱法之间的抉择

Identification of hemoglobin AC heterozygote status in a Malay family: a decision between hemoglobin electrophoresis and high performance liquid chromotography.

作者信息

Rosline H, Roshan T M, Ahmed S A, Ilunihayati I

机构信息

Department of Hematology, School of Medical Sciences, University Sains Malaysia, Kubang Kerian, Kelantan.

出版信息

Southeast Asian J Trop Med Public Health. 2007 May;38(3):543-5.

PMID:17877232
Abstract

Thalassemia is a common public health problem among Malays. Hemoglobin C (Hb C) is a hemoglobin beta variant resulting from a single base mutation at the 6th position of the beta-globin gene leading to the substitution of glycine for glutamic acid. Hb C is commonly detected in West Africans and in African American but has not been reported in Malaysia. It can be falsely diagnosed as HbE trait in the Malaysian Thalassemia Screening Program which utilizes cellulose acetate hemoglobin electrophoresis. This is the first reported case of Hb AC heterozygote status in a Malay family, with unusual splenomegaly in one of the family members.

摘要

地中海贫血是马来西亚人中常见的公共卫生问题。血红蛋白C(Hb C)是一种血红蛋白β变体,由β-珠蛋白基因第6位的单个碱基突变导致甘氨酸取代谷氨酸。Hb C在西非人和非裔美国人中常见,但在马来西亚尚未有报道。在马来西亚地中海贫血筛查项目中,利用醋酸纤维素血红蛋白电泳时,它可能被误诊为HbE特征。这是首次报道的一个马来家庭中Hb AC杂合子状态的病例,其中一名家庭成员有不寻常的脾肿大。

相似文献

1
Identification of hemoglobin AC heterozygote status in a Malay family: a decision between hemoglobin electrophoresis and high performance liquid chromotography.一个马来家庭中血红蛋白AC杂合子状态的鉴定:血红蛋白电泳与高效液相色谱法之间的抉择
Southeast Asian J Trop Med Public Health. 2007 May;38(3):543-5.
2
Hematological and molecular characterization of beta-thalassemia/Hb Tak compound heterozygote.
Southeast Asian J Trop Med Public Health. 2003 Jun;34(2):415-9.
3
Utilization of different methodologies for the characterization of Hb Hasharon heterozygotes.利用不同方法对哈沙龙血红蛋白杂合子进行特征分析。
Genet Mol Res. 2006 Mar 31;5(1):1-6.
4
Haemoglobin Lepore in a Malay family: a case report.
Malays J Pathol. 2005 Jun;27(1):33-7.
5
Hb St. Jozef, A Val-->Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in Cis with a -alpha3.7 thalassemia deletion.圣约瑟夫血红蛋白,一种缬氨酸→亮氨酸的N端突变,导致甲硫氨酸保留,并且在与-α3.7地中海贫血缺失处于顺式排列的珠蛋白基因中发现部分乙酰化。
Hemoglobin. 2007;31(3):313-23. doi: 10.1080/03630260701459473.
6
[Double heterozygote hemoglobin D/B0 thalassemia. Report of 3 cases in a Portuguese family].[双杂合子血红蛋白D/B0地中海贫血。一个葡萄牙家庭中的3例报告]
Nouv Rev Fr Hematol (1978). 1983;25(6):387-90.
7
Heterozygous Hb Hope [beta136(H14)Gly --> Asp] in association with heterozygous beta0-thalassemia with apparent homozygous expression, in a Spanish patient.一名西班牙患者中,杂合子Hb Hope [β136(H14)甘氨酸→天冬氨酸] 与具有明显纯合子表达的杂合子β0地中海贫血相关。
Hemoglobin. 2006;30(1):45-9. doi: 10.1080/03630260500454238.
8
[Identification of hemoglobin D Punjab (beta 121 glu replaced by gln) in an Austrian family. Sequence analysis of the abnormal tryptic peptide beta XTp13].[奥地利一个家族中血红蛋白D旁遮普型(β链第121位谷氨酸被谷氨酰胺取代)的鉴定。异常胰蛋白酶肽βXTp13的序列分析]
Wien Klin Wochenschr. 1983 Nov 25;95(22):785-8.
9
Haemoglobin J Rovigo 53 alpha (E-2) aspartic acid alanin.
Rev Bras Pesqui Med Biol. 1980 Apr;13(1-3):37-9.
10
A case of Hb J-Camaguey or alpha 2141(HC3)Arg----Gly beta 2 in a Chinese family.
Hemoglobin. 1984;8(4):397-9.

引用本文的文献

1
Molecular basis and hematological features of hemoglobin variants in Southern Thailand.泰国南部血红蛋白变异体的分子基础和血液学特征。
Int J Hematol. 2010 Oct;92(3):445-50. doi: 10.1007/s12185-010-0682-x. Epub 2010 Sep 14.