1.
Haematologica
; 92(9): 1264-5, 2007 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17768122
RESUMO
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.