| Autor: |
Johnson MH, Jue DL, Patchen LC, Hartwig EC Jr, Schneider NJ, Moo-Penn WF |
| Jazyk: |
angličtina |
| Zdroj: |
Biochimica et biophysica acta [Biochim Biophys Acta] 1980 May 29; Vol. 623 (1), pp. 119-23. |
| DOI: |
10.1016/0005-2795(80)90014-8 |
| Abstrakt: |
Hemoglobin Tampa was detected in a 6-year-old male caucasian who is homozygous for this variant hemoglobin. The variant hemoglobin has an electrophoretic mobility between Hb F and Hb S on cellulose acetate (pH 8.5) and a mobility between Hb S and Hb C on citrate agar (pH 6.0). In acid buffer globin chain analysis revealed an abnormal beta chain with a mobility between the beta A and beta S chains, and in alkaline buffer the mobility of the chain was at the beta S position. Structural characterization of the variant beta chain indicates that aspartic acid is replaced with tyrosine at position 79, the site of a previously reported mutation, Asp replaced by Gly (Hb Hsi-Tsou). The clinical histories of the available family members including the homozygous propositus appear to be unremarkable. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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