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Codon 104(-G), a dominant ß⁰-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors

Department of Pediatrics, University Children's Hospital, Ulm, Germany (GL, JB, K-MD, EK); DRK-Krankenhaus Neuwied, Neuwied, Germany (SO, GWF)

Correspondence: Georgia Lahr, Department of Pediatrics, University Children’s Hospital, Eythstrasse 24, D-89075 Ulm, Germany. Phone: international +49.731.50057234. Fax: international +49.731.50057235. E-mail: georgia.lahr{at}uni-ulm.de

Codon 104(–G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited ß⁰-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. A co-inherited gene triplication, long-term transfusion therapy, and ineffective erythropoiesis were confounding factors.

Key words: dominant ß⁰-thalassemia, triplication.