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CONTACT | |
Heme contact; proximal histidine | |
HEMATOLOGY | |
Mild anemia in the proband who had Hb X-betao-thal | |
ELECTROPHORESIS | |
Hb X moves faster than Hb A at alkaline pH | |
CHROMATOGRAPHY | |
Not reported; the betaX and betaA chains readily separate by CM-cellulose chromatography (the Clegg method) | |
STRUCTURE STUDIES | |
Tryptic digestion of the betaX chain; separation of peptides by fingerprinting; cation exchange chromatography; glycinamidation; amino acid analysis; formic acid | |
DNA ANALYSES | |
Not reported; presumed mutation CAC->GAC at codon 92 | |
FUNCTION STUDIES | |
Normal oxygen affinity; cooperativity slightly decreased | |
STABILITY | |
Mildly unstable | |
OCCURRENCE | |
Found in a 21-year-old Black female and her son living in Chicago, Illinois, USA | |
OTHER INFORMATION | |
Methemoglobinemia was absent | |