Hb G-Ferrara | beta57(E1)Asn->Lys |
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CONTACT | External | ||
HEMATOLOGY | Data for the heterozygote not reported | ||
ELECTROPHORESIS | Not reported | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AAC->AAA or AAG at codon 57 | ||
FUNCTION STUDIES | Normal oxygen affinity, alkaline Bohr effect, and cooperativity | ||
STABILITY | Mildly unstable | ||
OCCURRENCE | Found in one Italian family | ||
OTHER INFORMATION | Present in combination with a beta-thal determinant |
REFERENCES | |||
1. | Tentori, L.: Abstract, International Symposium on Abnormal Haemoglobins and Thalassaemias, Istanbul, Turkey, page 68, 1974. | ||
2. | Giardina, B., Brunori, M., Antonini, E., and Tentori, L.: Biochim. Biophys. Acta, 534:1, 1978. |