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