Hb Attleboro | alpha138(H21)Ser->Pro |
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CONTACT | Internal | ||
HEMATOLOGY | Mild anemia in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate by cellulose acetate (pH 8.3); Hb X appears as a band between Hb A and Hb S | ||
CHROMATOGRAPHY | Hb X and Hb A separate by anion exchange chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; chymotryptic digestion of the insoluble core; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation TCC->CCC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 5-year-old girl and her father | ||
OTHER INFORMATION | Quantity of Hb X approximately 11% |
REFERENCES | |||
1. | McDonald, M.J., Michalski, L.A., Turci, S.M., Guillette, R.A., Jue, D.L., Johnson, M.H., and Moo-Penn, W.F.: Biochemistry, 29:173, 1990. |