Abstract
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.
The appearance of two previously unobserved bands in isoelectric focusing gels of the newborn's Hb is suggestive of the presence of embryonic hemoglobins.
Zusammenfassung
Bei 2 Säuglingen mit Trisomie 13, einer in der Neugeborenenperiode, der andere 5 Monate alt, wurde die Hämoglobinkettensynthese untersucht. Bei dem Neugeborenen war die Beta-Kettensynthese deutlich erniedrigt, so daß Imbalance der Nicht-Alpha/Alpha-Globinsynthese resultierte. Bei dem 5 Monate alten Kind war die Globinsynthese balanciert, obwohl die Gamma-Globinsynthese einen größeren Anteil der Nicht-Alpha-Globinsynthese einnahm als normalerweise. Ein drittes Chromosom 13 bewirkt also eine ausgeprägte Störung des Umschaltmechanismus von Gamma- auf Beta-Globinsynthese, die vorwiegend das Anspringen der Beta-Globinsynthese betrifft.
Zwei sonst nicht vorhandene Banden in der isoelektrischen Focusierung von Hb des Neugeborenen sprechen für das Vorliegen von embryonalen Hämoglobinen.
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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft (B-21, SFB 51, M. J., und Mu 258/9, J.-D. M.).
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Jensen, M., Murken, J.D. Hemoglobin chain synthesis in two children with trisomy 13. Evidence for temporary imbalance during switch from gamma to beta chain synthesis. Eur J Pediatr 122, 151–157 (1976). https://doi.org/10.1007/BF00466273
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DOI: https://doi.org/10.1007/BF00466273