Hb D-Ouled Rabah | beta19(B1)Asn->Lys |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb S on paper at alkaline pH | ||
CHROMATOGRAPHY | Hb X and Hb A separate by cation and anion exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAC->AAA or AAG at codon 19 | ||
FUNCTION STUDIES | Not done | ||
STABILITY | Not done | ||
OCCURRENCE | Found in an Algerian family and in 60 members of a Tuareg tribe of the Southern Sahara | ||
OTHER INFORMATION | Quantity in heterozygotes 40-47% |
REFERENCES | |||
1. | Elion, J., Belkhodja, O., Wajcman, H., and Labie, D.: Biochim. Biophys. Acta, 310:360, 1973. | ||
2. | Braconnier, F., Beuzard, Y., El Gammal, H., Coquelet, M.T., and Rosa, J.: Nouv. Rev. Fr. d'Hematol., 15:527, 1975. | ||
3. | Mauran-Sendrail, A., Lefevre-Witier, Ph., Lehmann, H., and Casey, R.: Br. Med. Genet., 14:245, 1977. |