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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.

Authors :
Lahr G
Brintrup J
Over S
Feurle GE
Debatin KM
Kohne E
Source :
Haematologica [Haematologica] 2007 Sep; Vol. 92 (9), pp. 1264-5.
Publication Year :
2007

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.

Details

Language :
English
ISSN :
1592-8721
Volume :
92
Issue :
9
Database :
MEDLINE
Journal :
Haematologica
Publication Type :
Editorial & Opinion
Accession number :
17768122
Full Text :
https://doi.org/10.3324/haematol.11383