Hb Karlsruhe | beta28(B10)Leu->Met |
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CONTACT | Internal | ||
HEMATOLOGY | No details provided; methemoglobinemia | ||
ELECTROPHORESIS | Hb X moves like Hb F at alkaline pH; not detectable by IEF | ||
CHROMATOGRAPHY | No separation by cation exchange HPLC | ||
STRUCTURE STUDIES | Not reported | ||
DNA ANALYSES | ACTG->ATG mutation at codon 28 | ||
FUNCTION STUDIES | MetHb level ~8% | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in several members of a family from Southern Germany | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Seelig, H.P.: Personal communication, 1995. |