Hb Brockton | beta138(H16)Ala->Pro |
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CONTACT | Internal; central cavity | ||
HEMATOLOGY | Moderate hemolytic anemia with reticulocytosis | ||
ELECTROPHORESIS | No separation observed | ||
CHROMATOGRAPHY | No separation observed; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaX, betaA, alpha) | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation GCT->CCT at codon 138 | ||
FUNCTION STUDIES | Appears normal | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Caucasian female and in a 12-year-old Turkish girl; parents are not affected | ||
OTHER INFORMATION | About 20-25% of the Hb in hemolysate is heat labile |
REFERENCES | |||
1. | Moo-Penn, W.F., Jue, D.L., Johnson, M.H., Bechtel, K.C., and Patchen, L.C.: Hemoglobin, 4:347, 1980. | ||
2. | Ulukutlu, L., Ozsahin, H., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 13:509, 1989. |