东帝汶血红蛋白[β80(EF4)天冬酰胺→组氨酸，AAC>CAC (HBB基因c.241A>C)]，一种与正常血液学相关的变异血红蛋白。

Hb East Timor [β80(EF4)Asn→His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology.

作者信息

Finlayson Jill, Ghassemifar Reza, Holmes Paula, Grey Dianne, Figliomeni Lisa, Newbound Christopher, Pell Nicole, Kersten Michael, Jennens Michelle, Macaulay Claire, Greenwood Laura, Beilby John

机构信息

Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia.

出版信息

Hemoglobin. 2010;34(6):561-4. doi: 10.3109/03630269.2010.526896.

DOI:10.3109/03630269.2010.526896

PMID:21077763

Abstract

Routine hemoglobin (Hb) analyses identified a new β-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC>CAC) which results in the substitution of histidine for asparagine.

摘要

常规血红蛋白（Hb）分析在一个来自东帝汶的家族中发现了一种新的β-珠蛋白变体。所有受影响家庭成员的红细胞指数均在正常范围内。该变体是由氨基酸密码子80处的错义突变（AAC>CAC）引起的，导致天冬酰胺被组氨酸取代。