Hb J-Iran | beta77(EF1)His->Asp |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X is fast moving | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis; chymotrypsin; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CAC->GAC at codon 77 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in an Iranian family and in a Turkish family | ||
OTHER INFORMATION | Quantity in the heterozygote 43-47% |
REFERENCES | |||
1. | Rahbar, S., Beale, D., Isaacs, W.A., and Lehmann, H.: Br. Med. J., 1:674, 1967. | ||
2. | Arcasoy, A., Turhanoglu, I., Gozdasoglu, S., and Ogur, G.: Hemoglobin, 10:209, 1986. |