Article
Hb Nijkerk: a new mutation at codons 138/139 of the beta-globin gene inducing severe hemolytic anemia in a Dutch girl.
Hemoglobin - 1 May 1999
van den Berg H M, Bruin M C, Batelaan D, van Delft P, van Zwieten R, Roos D, Harteveld C L, Bernini L F, Giordano P C
Abstract excerpt
We describe a new structural mutant of the beta-globin chain in a 17-year-old Dutch Caucasian girl. The mutant is associated with a severe pathology as a consequence of hyper-instability of the hemoglobin tetramer. The proband, whose parents had no history of hemolysis, was admitted to the hospital at 5 months of age with hemolytic anemia and splenomegaly. No indications for autoimmune defects or enzymopathies...
Topics
- Acute Disease
- Adolescent
- Anemia, Hemolytic
- Codon
- Female
- Globins
- Hemoglobins, Abnormal
- Humans
- Mutation
- Netherlands