Hb Cook [beta 132(H10)Lys-->Thr]: a new hemoglobin variant in a southeast Asian family. 1996

P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
Department of Laboratory Medicine and Pathology Mayo Clinic, Rochester, MN 55905, USA.

Approximately 700 hemoglobin variants have been reported, causing a variety of clinical manifestations, with the majority being clinically silent. We report a new hemoglobin variant, Hb Cook, that was found in combination with Hb E in a child of Thai origin. DNA sequencing of the beta-globin gene showed that the mutation is AAA-->ACA in codon 132, corresponding to beta 132 (H10)Lys-->Thr.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D002851 Chromatography, High Pressure Liquid Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed. Chromatography, High Performance Liquid,Chromatography, High Speed Liquid,Chromatography, Liquid, High Pressure,HPLC,High Performance Liquid Chromatography,High-Performance Liquid Chromatography,UPLC,Ultra Performance Liquid Chromatography,Chromatography, High-Performance Liquid,High-Performance Liquid Chromatographies,Liquid Chromatography, High-Performance
D005260 Female Females
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001210 Asia, Southeastern The geographical area of Asia comprising BORNEO; BRUNEI; CAMBODIA; INDONESIA; LAOS; MALAYSIA; the MEKONG VALLEY; MYANMAR (formerly Burma), the PHILIPPINES; SINGAPORE; THAILAND; and VIETNAM. Southeast Asia,Southeastern Asia
D015345 Oligonucleotide Probes Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin. Oligodeoxyribonucleotide Probes,Oligonucleotide Probe,Oligoribonucleotide Probes,Probe, Oligonucleotide,Probes, Oligodeoxyribonucleotide,Probes, Oligonucleotide,Probes, Oligoribonucleotide
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

Related Publications

P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
January 1990, Hemoglobin,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
January 1990, Hemoglobin,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
January 1983, Hemoglobin,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
January 1987, Hemoglobin,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
November 2001, Hemoglobin,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
October 1974, Biochimica et biophysica acta,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
February 1971, Biochimica et biophysica acta,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
August 2016, Hemoglobin,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
November 1985, FEBS letters,
P J Hutt, and V F Fairbanks, and T C Griffin, and S N Thibodeau, and M M Green, and J D Hoyer
February 1996, Hemoglobin,
Copied contents to your clipboard!