Hb Harrow [β118(GH1)Phe→Cys]: A New Neutral Hemoglobin Variant
| Autor: | Jean Kister, Véronique Baudin-Creuza, Jérémie Riou, S. C. Davies, D. Promé, Henri Wajcman, Joan S. Henthorn, Frédéric Galactéros |
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| Rok vydání: | 1999 |
| Předmět: |
Adult
Electrophoresis Male Heterozygote Erythrocytes Hemoglobins Abnormal Phenylalanine Clinical Biochemistry India Mass Spectrometry Neonatal Screening Humans Point Mutation Cysteine Genetics (clinical) Hematologic Tests Chromatography Filter paper Chemistry Biochemistry (medical) Infant Newborn Hemoglobin variants Hematology Pedigree Dried blood spot Molecular Weight Oxygen Harrow England Female Hemoglobin Dimerization |
| Zdroj: | Hemoglobin. 23:273-279 |
| ISSN: | 1532-432X 0363-0269 |
| Popis: | We report here on a new hemoglobin (Hb) variant found in a newborn baby boy of Indian Gujerati origin, living in the Harrow area of London, England. This variant was observed during a systematic program of neonatal screening for the main hemoglobinopathies performed at the Central Middlesex Hospital in the North Thames (West) Region of London. In this program, the samples are collected from a heelprick onto filter paper when the child is 7-10 days old. A dried blood spot of 0.3 cm diameter is obtained from which Hb is eluted by a 5 mM KCN solution to be analyzed by isoelectrofocusing (IEF). |
| Databáze: | OpenAIRE |
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