| Hb Bristol | beta67(E11)Val->Asp |
|---|
| NOTE: | A recent study by Rees et al (Ref. 3) concerns the analysis of the Hb Bristol abnormality in the original family and in two Japanese heterozygotes. All three have a GTG->ATG mutation by sequencing analysis as in Hb Alesha (beta67, Val->Met). Posttranslational modifications are believed to change some of the properties of the abnormal Hb such as an increased mobility; this could contribute to an an inaccurate identification. The formation of a Hb fraction in the Hb Alesha heterozygote with an Asp->Met replacement has not been reported | ||
| CONTACT | Heme contact | ||
| HEMATOLOGY | Congenital non-spherocytic hemolytic anemia with Heinz body formation; reticulocytosis | ||
| ELECTROPHORESIS | Moves with Hb A at alkaline pH; no other reports available | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | pCMB; tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
| DNA ANALYSES | Not reported (see Other Information) | ||
| FUNCTION STUDIES | Decreased oxygen affinity, cooperativity, and Bohr effect | ||
| STABILITY | Unstable | ||
| OCCURRENCE | Found in an English male and not his parents; Ref. 1 describes the first clinical data | ||
| OTHER INFORMATION | Quantity in the heterozygote 36%. The normally occurring codon GTG cannot be mutated through a single base change to GAT (Asp) or GAC (Asp). There are two possibilities: a) The Hb is misdiagnosed and is in fact Hb M-Milwaukee-I (GTG->GAG; Val->Glu) or b) the original codon in this subject was GTT or GTC; the two can be mutated to GAT (Asp) or GAC (Asp); further study of this patient is recommended |
| REFERENCES | |||
| 1. | Cathie, I.A.B.: Great Ormond St. J., 2:43, 1952. | ||
| 2. | Steadman, J.H., Yates, A., and Huehns, E.R.: Br. J. Haematol., 18:435, 1970. | ||
| 3. | Rees, D.C., Rochette, J., Green, B., Schofield, C.J., Ohba, Y., and Clegg, J.B.: Blood, 88:6a (Suppl. 1), 1995. | ||