title: Codon 104(-G), a dominant beta0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors.
abstract: Codon 104(-G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited beta0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. A co-inherited a gene triplication, long-term transfusion therapy, and ineffective erythropoiesis were confounding factors.
authors.forename: Georgia
authors.initials: G
authors.lastname: Lahr
authors.forename: Joaquin
authors.initials: J
authors.lastname: Brintrup
authors.forename: Stefan
authors.initials: S
authors.lastname: Over
authors.forename: Gerhard E
authors.initials: GE
authors.lastname: Feurle
authors.forename: Klaus-Michel
authors.initials: KM
authors.lastname: Debatin
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kohne
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000743:Anemia, Hemolytic / Q000235:genetics*; D001803:Blood Transfusion; D003062:Codon; D004920:Erythropoiesis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005799:Genes, Dominant; D005858:Germany; D005914:Globins / Q000235:genetics*; D006529:Hepatomegaly / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D019190:Iron Overload; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013163:Splenomegaly / Q000209:etiology; D044465:White People; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D003062:Codon; D005914:Globins