Two new large deletions resulting in epsilon gamma delta beta-thalassemia.
Detailed gene mapping data are provided for members of a Yugoslavian and Canadian family with a thalassemia heterozygosity characterized by mild anemia with severe microcytosis and hypochromia, normal levels of Hb A2 and slightly raised Hb F levels. The condition in both families results from large deletions (minimally approximately 148 kb in the Yugoslavian family and minimally approximately 185 kb in the Canadian family), which include all functional and psi genes of the beta globin gene cluster. The Canadian propositus was a newborn baby who has been followed for nearly 2 years; severe anemia developed some 30-40 days after birth when the Hb F level was still 70%; recovery was evident at the age of 90 days when the Hb F level had decreased to 40%.
D000328:Adult; D002170:Canada; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000302:isolation & purification; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009710:Nucleotide Mapping; D013789:Thalassemia / Q000097:blood / Q000209:etiology / Q000235:genetics*; D015022:Yugoslavia / Q000208:ethnology
D005914:Globins; D004247:DNA