[ XXXX in one family: gamma-delta-beta thalassemia].

@entity1 @entity417 @entity24194 @entity368 @entity648 @entity13554 @entity5714 @entity8674 @entity3638
Ten newborn @entity1 , all belonging to one family, suffered from severe @entity5714 . Four babies died shortly before or after birth, six recovered (one spontaneously, 5 after one or more exchange transfusions). In 5 out of 8 @entity1 a mixed @entity3638 was observed in the immediate postnatal period, with elevated levels of indirect- as well as direct-reacting @entity648 . After the neonatal period, a slight @entity24194 , @entity417 persisted, without icterus but with decreased osmotic fragility of the erytrocytes and with target cells in the blood smear. The same hematological picture was observed in one of the parents of each affected baby. All anemic adults belong to one large family; therefore, a dominant mode of inheritance is most likely. Although the hematological findings are suggestive for @entity8674 normal HbF and @entity13554 levels were observed. In vitro incorporation of radioactive @entity368 into globin chains in reticulocytes demonstrated defective synthesis of beta chains in the affected adults; in two affected @entity1 the same technique showed defective gamma-chain synthesis as well. Analysis of the hemoglobin genes proved that the affected family members are suffering from heterozygous gamma-delta- @entity8674 , as originally described by Kan et al. (1972).
