Hb Freiburg | beta23(B5)Val->0 |
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HEMATOLOGY | Mild hemolytic anemia with cyanosis in the heterozygote | ||
ELECTROPHORESIS | Hb X moves in the position of Hb F in starch gel electrophoresis at alkaline pH | ||
CHROMATOGRAPHY | Hb X and Hb A separate in both cation and anion exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis | ||
DNA ANALYSES | Not done | ||
FUNCTION STUDIES | Increased oxygen affinity; metHb with specific spectrum | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in members of a German family | ||
OTHER INFORMATION | Quantity in heterozygotes 27-32% |
REFERENCES | |||
1. | Betke, K. and Kleihauer, E.: Schweiz. Med. Wschr., 42:1316, 1962. | ||
2. | Jones, R.T., Brimhall, B., Huisman, T.H.J., Kleihauer, E., and Betke, K.: Science, 154:1024, 1966. |