Hb Higashitochigi (or HT) | beta24(B6) or beta25(B7) Gly->0 |
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HEMATOLOGY | MetHb; cyanosis; normal hematology; reticulocytosis | ||
ELECTROPHORESIS | Hb X focuses as a dark brown band behind Hb A and Hb F | ||
CHROMATOGRAPHY | Hb X separates from Hb A on an anion exchange HPLC column (between Hb A and Hb A2); the betaX chain separates from betaA and alpha on a reversed phase HPLC column (elution order: betaA, alpha, betaX) | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | A deletion of three nts at codons 24-25 (GGTGGT->GGT) | ||
FUNCTION STUDIES | MetHb formation | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Japanese child, but not in the parents | ||
OTHER INFORMATION | MetHb 16.5%; spectrum slightly abnormal; normal after addition of KCN |
REFERENCES | |||
1. | Fujisawa, K., Yamashiro, Y., Hattori, Y., Ohba, Y., Kajita, T., Kageyama, S., and Arita, J.: Hemoglobin, 17:467, 1993. |