Hb S-Oman | beta6(A3)Glu->Val; |
---|---|
beta121(GH4)Glu->Lys |
HEMATOLOGY | Presumably normal; the carrier had microcytosis and hypochromia due to a coexisting alpha-thal-2 homozygosity | ||
ELECTROPHORESIS | Hb X moves slower than Hb C at alkaline pH | ||
CHROMATOGRAPHY | Hb X can be separated from Hb A and Hb A2 by anion exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of Hb X; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GAG->GTG and GAA->AAA at codons 6 and 121 | ||
FUNCTION STUDIES | Sickling test is positive | ||
STABILITY | The same as that of Hb S | ||
OCCURRENCE | Found in a 24-year-old male from Oman | ||
OTHER INFORMATION | Hb X was 14.5% of total Hb; Hb X is considerably less soluble than Hb S; comparable to Hb S-Antilles; the beta121 Glu-> Lys replacement is characteristic for Hb O-Arab |
REFERENCES | |||
1. | Langdown, J.V., Williamson, D., Knight, C.B., Rubenstein, D., and Carrell, R.W.: Br. J. Haematol., 71:443, 1989. |