Hb Evans orα262(E11)Val→Metβ2; an Unstable Hemoglobin Causing a Mild Hemolytic Anemia
作者:
WilsonJ. B.,
WebberB. B.,
KutlarA.,
ReeseA. L.,
McKieV. C.,
LutcherC. L.,
FeliceA. E.,
HuismanT. H. J.,
期刊:
Hemoglobin
(Taylor Available online 1989)
卷期:
Volume 13,
issue 6
页码: 557-566
ISSN:0363-0269
年代: 1989
DOI:10.3109/03630268908993106
出版商: Taylor&Francis
数据来源: Taylor
摘要:
Structural analysis o f theαchain of the hemoglobin from a Caucasian female with a mild hemolytic anemia showed the presence of a variant with a Val→Met substitution at positionα62. The valine at this position forms one o f the contacts with heme and its replacement by methionine will likely decrease heme binding and cause adistortion of the heme crevice and a decreased stability of the abnormal protein. Dot-blot analysis of amplified DNA with32P-labeled synthetic oligonucleotide probes confirmed the suspected G→A mutation in the first position of codon 62, and also located the mutation in theα2-globin gene. The mutation was found in the proposita and one of her daughters but was most probably absent in her parents.
点击下载:
PDF (568KB)
返 回