Hb Hinsdale | beta139(H17)Asn->Lys |
---|
CONTACT | Central cavity | ||
HEMATOLOGY | Nearly normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X migrates in the position of Hb F; at acidic pH Hb X has a mobility like Hb S | ||
CHROMATOGRAPHY | No specific information provided | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AAT->AAC or AAA at codon 139 | ||
FUNCTION STUDIES | Decreased oxygen affinity and reduced cooperativity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in three members of one family | ||
OTHER INFORMATION | Quantity in the heterozygote estimated at 45-46% |
REFERENCES | |||
1. | Moo-Penn, W.F., Johnson, M.H., Jue, D.L., and Lonser, R.: Hemoglobin, 13:455, 1989. |