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

Haematologica. 2007 Sep;92(9):1264-5. doi: 10.3324/haematol.11383.

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.

Publication types

  • Letter

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

Substances

  • Codon
  • Globins