|
|
|
|
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves between Hb S and Hb F (Tris buffer) and between Hb A2 and Hb S (barbiturate buffer) on paper at alkaline pH; Hb X moves between Hb E and Hb S on starch gel at alkaline pH, and as Hb C on citrate agar at acidic pH | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated by cation and anion exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; amino acid analysis; carboxypeptidase B used to determine the C-terminal amino acid of peptide betaT-1 | |
DNA ANALYSES | |
Not reported; presumed mutation GAG->AAG at codon 7 | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Not reported | |
OCCURRENCE | |
Found in a few Thai and Chinese families | |
OTHER INFORMATION | |
Quantity in heterozygotes 33-40%; the variant has been found in combination with beta-thal and in a homozygote (Ref. 3) | |
|
|
|
|
REFERENCES |
1. | |
Tuchinda, S., Beale, D., and Lehmann, H.; Br. Med. J., 1:1583, 1965. | |
2. | |
Blackwell, R.Q., Liu, C-S., and Wang, C-L.: Vox Sang., 23:433, 1972. | |
3. | |
Zeng, Y. and Huang, S.; Acta Genet. Sin., 6:155, 1979. | |