A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby
girl with homozygous beta0 thalassemia
G Schiliro, S Musumeci, G Pizzarelli, A Russo, M Marinucci, E Bruni and G Russo
A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford,
presenting the clinical picture of homozygous beta thalassemia is
described. Hemoglobin electrophoresis showed three bands: the first two
with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively,
the third migrating a little faster than Hb A (30%). About 30% of her alpha
chains were J Oxford which, bound to her gamma chains, produced a new
alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been
described previously. Hemoglobin synthesis in vitro showed the absence of
beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's
father was heterozygous for both the Hb J Oxford and beta0 thalassemia
genes, the mother a carrier of beta0 thalassemia; four other relatives were
carriers of Hb J Oxford, and one was a carrier of beta thalassemia.
Volume 48,
Issue 5,
pp. 639-651,
11/01/1976
Copyright © 1976 by The American Society of Hematology
