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| HEMATOLOGY | |
Normal in the heterozygote | |
| ELECTROPHORESIS | |
Hb X moves slower than Hb A at alkaline pH; it separates readily by IEF | |
| CHROMATOGRAPHY | |
Hb X was isolated on a DEAE-Sephadex or DEAE-cellulose column | |
| STRUCTURE STUDIES | |
Tryptic digestion of AE-deltabeta chain; separation of peptides by fingerprinting, cation exchange chromatography or reversed phase HPLC; amino acid analysis | |
| DNA ANALYSES | |
The betadelta gene of Hb P-Nilotic is located between a delta and a beta gene and results from a non-homologous crossover between beta and delta genes; this crossover occurred without loss of bases within a 54 bp stretch of DNA between nts 275 and 330 (corresponding to amino acid residues 31 and 50); thus, exon 1 and IVS-I originate from beta; exon 2, IVS-II, and exon 3 from delta | |
| FUNCTION STUDIES | |
Increased oxygen affinity; normal Bohr effect and cooperativity | |
| STABILITY | |
Normal | |
| OCCURRENCE | |
Found in a Nubian living in Cairo, and in Mexican-American, Turkish, and Sudanese families | |
| OTHER INFORMATION | |
Quantity in the heterozygote 16-21%; found in association with beta+-thal | |
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| REFERENCES |
| 1. | |
Badr, F.M., Lorkin, P.A., and Lehmann, H.: Nature, 242:107, 1973. | |
| 2. | |
Moo-Penn, W.F., Bechtel, K.C., and Therrell, B.L.: Hemoglobin, 2:65, 1978. | |
| 3. | |
Raybourne, S.R. Stallings, M.B., Gravely, M.E., and Huisman, T.H.J.: Biochim. Biophys. Acta, 535:78, 1978. | |
| 4. | |
Abu-Sin, A., Felice, A.E., Gravely, M.E., Wilson, J.B., Reese, A.L., Lam, H., Miller, A., and Huisman, T.H.J.: J. Lab. Clin. Med., 93:973, 1979. | |
| 5. | |
Altay, Ç., Kutlar, A., Wilson, J.B., Webber, B.B., and Huisman, T.H.J.: Hemoglobin, 11: 395, 1987. | |
| 6. | |
Liu, J-Z., Harano, T., Lanclos, K.D., and Huisman, T.H.J.: Biochim. Biophys. Acta, 909: 208, 1987. | |