| Abstrakt: |
Hemoglobin chain synthesis was studied in 2 infants with trisomy 13, one in the newborn period, the other at 5 months of age. The relative rate of beta globin synthesis was much below normal in the newborn, resulting in an overall imbalance of nonalpha/alpha globin synthesis. In the 5-month-old child, globin synthesis was balanced, although gamma globin synthesis accounted for a larger than normal percentage of nonalpha globin synthesis. Thus, the presence of a third 13 chromosome causes severe disturbances in the gamma to beta switch mechanism primarily affecting the onset of beta globin synthesis. |
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