Article
Haemoglobin Köln as de novo mutations in Sweden: diagnosis by PCR and specific enzymatic cleavage.
European journal of haematology - 1 Mar 1994
Landin B, Fröstad B, Brune M, Ljung R
Abstract excerpt
Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Köln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in c...
Topics
- Adult
- Amino Acid Sequence
- Anemia, Hemolytic, Congenital
- Base Sequence
- Child
- DNA Primers
- Female
- Globins
- Hemoglobins, Abnormal
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Restriction Mapping
