Hb Las Palmas | beta49(CD8)Ser->Phe |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote; mild reticulocytosis | ||
ELECTROPHORESIS | No separation by standard techniques; the betaX and betaA chains separate by PAGE | ||
CHROMATOGRAPHY | No separation by cation or anion exchange HPLC; the betaX and betaA chains separate in reversed phase HPLC; betaX elutes very slowly behind alpha (betaA, alpha, betaX) | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation TCC->TTC at codon 49 | ||
FUNCTION STUDIES | Not determined | ||
STABILITY | Slightly unstable | ||
OCCURRENCE | Found in two members of a family from the Canary Islands, Spain | ||
OTHER INFORMATION | Quantity in the heterozygote 43-45% |
REFERENCES | |||
1. | Malcorra-Azpiazu, J.J., Balda-Aguirre, M.I., Diaz-Chico, J.C., Hu, H., Wilson, J.B., Webber, B.B., Kutlar, F., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 12:163, 1988. |