Related Experiment Video
Updated: Aug 5, 2026

Dried Blood Spots - Preparing and Processing for Use in Immunoassays and in Molecular Techniques
Published on: March 13, 2015
First case of a single heterozygote of an abnormal hemoglobin, Hb Stanmore, [beta111(G13)Val-->Ala]
A Miyazaki1, T Nakanishi, A Shimizu
1Department of Clinical Pathology, Osaka Medical College, 2-7 Daigakumachi, Takatsuki City, Osaka 569-8686, Japan.
Abstract:
We describe a hemoglobin beta-chain mutant detected incidentally in an unusual profile of glycated hemoglobin (HbA1c) measured by ion-exchange HPLC. Analysis of intact globin by electrospray ionization mass spectrometry (ESI-MS) and peptide analysis by on-line HPLC-ESI-MS-MS revealed the substitution, [beta111(G13)Val-->Ala], which was confirmed by DNA analysis. This was the second case of Hb Stanmore. As the first case combined beta(0)-thalassemia, and the family study in that case showed no case of Hb Stanmore without combined thalassemia, the case presented here is the first case of single heterozygote, and the first Japanese case. Hb Stanmore is isoelectrophoretically silent with only mild clinical symptoms, although stability by isopropanol test was positive.
More Related Videos
11:59Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
12:04Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
Published on: March 10, 2023
Related Concept Videos
Genetic Lingo
Multiple Allele Traits
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Blood Types
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
Hemoglobin
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
Hepatitis