Beta-thalassemia unlinked to the beta-globin gene in an English family

Autor:	S. L. Thein, SN Wickramasinghe, William G. Wood, MC Galvin
Rok vydání:	1993
Předmět:	Genetics Immunology Beta thalassemia Cell Biology Hematology Biology medicine.disease Biochemistry Molecular biology Hypochromic microcytic anemia Hemoglobinopathy Hemoglobin A2 Genetic linkage hemic and lymphatic diseases Gene cluster medicine Globin Restriction fragment length polymorphism
Zdroj:	Blood. 82:961-967
ISSN:	1528-0020 0006-4971
Popis:	An inherited hypochromic microcytic anemia transmitted in an autosomal manner has been observed in three generations of an English family. Affected members had the hallmarks of heterozygous beta-thalassemia, ie, elevated levels of hemoglobin A2 and imbalanced globin chain synthesis. However, despite extensive sequence analysis, no mutations could be found in or around the beta-globin genes of either the propositus or two other affected members from two different generations. Linkage analysis using restriction fragment length polymorphisms in the beta-globin gene cluster clearly showed that the gene responsible for the beta-thalassemia phenotype segregates independently of the beta-gene complex. Therefore, this condition represents a novel form of the disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::296e3ae946d9a85a1caec6ef01a47818 https://doi.org/10.1182/blood.v82.3.961.961 Zobrazit plný text záznamu