Hb J-Sardegna | alpha50(CE8)His->Asp |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH; Hb X moves as Hb J on cellogel | ||
CHROMATOGRAPHY | Hb X and Hb A separate by chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CAC->GAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in Italian families | ||
OTHER INFORMATION | Quantity in heterozygotes ~20-22%; found in combination with beta-thal and with Hb G-Philadelphia |
REFERENCES | |||
1. | Tangheroni, W., Zorcolo, G., Gallo, E., and Lehmann, H.: Nature, 218:470, 1968. | ||
2. | Tangheroni, W., Zorcolo, G., Gallo, E., and Lehmann, H.: Helv. Paediatr. Acta, 24:174, 1969. | ||
3. | Gallo, E., Pugliatti, L., Ricco, G., Pich, P.G., Pinna, G., and Mazza, U.: Acta Haematol., 47:311, 1972. | ||
4. | Meloni, T., Pilo, G., Camardella, L., Cancedda, F., Lania, A., Pepe, G., and Luzzatto, L.: Blood, 55:1025, 1980. |