An individual with Hb-Lepore-Baltimore- delta beta-thalassaemia in a Yugoslavian family.
The clinical, haematological and biochemical findings in a person with delta beta-thalassaemia and Hb-Lepore are described. The patient was a 24-year-old student who suffered from anaemia of intermediate severity with late onset of the clinical manifestations, had minor bone and facial deformities, but had no necessity for regular transfusions. Haemoglobins A and A2 were absent in this individual, and the Hb-Lepore has been identified as Lepore-Baltimore. Heterogeneity of gamma chain of the Hb-F follows the expected pattern. The study provides further evidence that neither beta nor delta chains are synthesized in cis to delta beta-thalassaemia or Hb-Lepore.
D000328:Adult; D000368:Aged; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000302:isolation & purification; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000150:complications* / Q000235:genetics; D015022:Yugoslavia
D006455:Hemoglobins, Abnormal