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Haematologica ; 92(9): 1264-5, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17768122

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.


Subject(s)
Anemia, Hemolytic/genetics , Codon , Frameshift Mutation/genetics , Globins/genetics , beta-Thalassemia/genetics , Adult , Aged , Aged, 80 and over , Blood Transfusion , Erythropoiesis , Female , Genes, Dominant , Germany , Hepatomegaly/etiology , Heterozygote , Humans , Iron Overload , Male , Pedigree , Phenotype , Splenomegaly/etiology , White People , beta-Thalassemia/diagnosis , beta-Thalassemia/therapy
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