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| CONTACT | |
Heme contact | |
| HEMATOLOGY | |
Moderately severe hemolytic anemia; reticulocytosis; Heinz bodies | |
| ELECTROPHORESIS | |
Hb X moves slower than Hb A at alkaline pH (Hb X appears as a smear between Hb A2 and Hb A); a free alpha chain band is also present | |
| CHROMATOGRAPHY | |
Not reported | |
| STRUCTURE STUDIES | |
Fingerprinting; amino acid analysis | |
| DNA ANALYSES | |
A CTG->CCG mutation at codon 88 (Ref. 5) | |
| FUNCTION STUDIES | |
Not reported | |
| STABILITY | |
Unstable | |
| OCCURRENCE | |
Found in three members of a family living in California, in a 7-year-old male living in Hungary, in members of a family living in the USA, in a patient living in France, and in a Caucasian female from Brazil | |
| OTHER INFORMATION | |
Hb X occurred in some families as a de novo mutation; the Brazilian patient carried an additional mutation at codon 9 (TCT->TGT) (= Hb Porto Alegre); quantity in the heterozygote not definitely determined | |
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| REFERENCES |
| 1. | |
Opfell, R.W., Lorkin, P.A., and Lehmann, H.: J. Med. Genet., 5:292, 1968. | |
| 2. | |
Fairbanks, V.F., Opfell, R.W., and Burgert, E.M.: Am. J. Med., 46:344, 1969. | |
| 3. | |
Hollan, S.R., Szelenyi, J.G., Miltenyi, M., Charlesworth, D., Lorkin, P.A., and Lehmann, H.: Haematologia, 4:141, 1970. | |
| 4. | |
Biserte, G., Goudemand, M., Voisin, D., Charlesworth, D., Lorkin, P.A., and Lehmann, H.: Nouv. Rev. Fr. d'Hematol., 10:201, 1970. | |
| 5. | |
Goncalves, M.S., Sonati, M.F., Kimura, M., Arruda, V.R., Costa, F.F., Nechtman, J.F., and Stoming, T.A.: Hemoglobin, 18:235, 1994. | |