Hb Shaare Zedek | alpha56(E5)Lys->Glu |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | This fast-moving variant separates from Hb A at alkaline pH; moves to the position of Hb H on paper and cellulose acetate | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation AAG->GAG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in six members of a Jewish family | ||
OTHER INFORMATION | Quantity in heterozygotes not clearly determined; some members of this family may have an interacting alpha-thal |
REFERENCES | |||
1. | Abramov, A., Lehmann, H., and Robb, L.: FEBS Lett., 113:235, 1980. |