DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN A CHROMOSOMAL TRIPLICATION: D 1 TRISOMY SYNDROME
- 1 January 1964
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 51 (1) , 89-97
- https://doi.org/10.1073/pnas.51.1.89
Abstract
Hb-Gower 2 appears to be a normal embryonic hemoglobin detectable in very young human embryos. This hemoglobin was found to persist in small amounts in 5 newborns with D1 trisomy. These infants also carried increased amounts of Hb-[gamma]4. Hb-Gower 2 is a tetramer with 2 normal a chains. It is suggested that the non-a-chains differ from the other hemoglobin chains by more than one amino acid substitution and that they represent a hitherto undescribed, biochemically and functionally distinct chain, the c chain. Three older children with D1 trisomy had slightly elevated amounts of Hb-F. Presumably, genetic elements which, directly or indirectly, affect the synthesis of [gamma] and the postulated chains are located on the chromosome triplicated in D1 trisomy.Keywords
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