Molecular, haematological and clinical studies of the −101 C → T substitution of the β-globin gene promoter in 25 β-thalassaemia intermedia patients and 45 heterozygotes

Autor:	Emmanouel Kanavakis, Maria Tzetis, Christina Vrettou, Christos Kattamis, Anna Metaxotou-Mavrommati, E. Maragoudaki, J. Traeger-Synodinos
Rok vydání:	1999
Předmět:	Hemolytic anemia Mutation Heterozygote advantage Hematology Biology medicine.disease_cause medicine.disease Compound heterozygosity Molecular biology Loss of heterozygosity Hemoglobinopathy hemic and lymphatic diseases medicine Globin Gene
Zdroj:	British Journal of Haematology. 107:699-706
ISSN:	0007-1048
DOI:	10.1046/j.1365-2141.1999.01788.x
Popis:	We report the clinical, haematological, biosynthetic and molecular data of 25 double heterozygote β-thalassaemia intermedia patients and 45 β-thalassaemia heterozygotes with the C T substitution at nucleotide position −101 from the Cap site, in the distal CACCC box of the β-globin gene promoter. This mutation is considered the most common amongst the silent β-thalassaemia mutations in Mediterranean populations. Of the 25 compound heterozygotes for the β−101 C T and common severe β-thalassaemia mutations, all but one had mild thalassaemia intermedia preserving haemoglobin levels around 9.5 g/dl and haemoglobin F levels
Databáze:	OpenAIRE
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