Abstract
Two unrelated Turkish children were found to be homozygous for δβ -thalassemia. Starch gel electrophoresis at pH 9.0 revealed only an HbF band in each case and an AFA2 pattern from all the parents. HbA2 was not detectable in the patients and the level was within normal limits in the parents by column chromatography. Structural analysis of HbF indicated the presence of an Ar :Gr ratio at adult level, and, interestingly, Threonine was not present at the 75th position of the r chain. Invitro hemoglobin synthesis gave a non α/α ratio of 0.24 and 0.20 from the patients. The ratios in the parents were 0.48 and 0.44 in one family and 0.38 and 0.27 in the other.
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Altay, C., Dincol, G., Aksoy, M. et al. Biosynthetic and structural studies in two unrelated cases of homozygous δ β -thalassemia. Pediatr Res 13, 86 (1979). https://doi.org/10.1203/00006450-197901000-00102
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DOI: https://doi.org/10.1203/00006450-197901000-00102