Fetal Hemoglobin Synthesis in Erythroid Cultures in Hereditary Persistence of Fetal Hemoglobin and @#{176}-Thalassemia By Rona
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چکیده
To determine whether hemoglobin regulation is normal in diseases affecting 1-globin gene expression. globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/fi#{176}-thalassemia (HPFH/$#{176}-thal). The HPFH defect is the Ghanian type II. with a deletion from t’$ to at least 20 kb 3’ to . The / #{176}-thaI gene has the haplotype II restriction enzyme pattern and has the 339 nonsense mutation. Erythroid cobnies from blood BFU-E were radiobabeled. and gbobin chains were separated by gel electrophoresis. Colonies from the $#{176}-thal heterozygote had non-a/a ratios more balanced than in the reticulocytes. Gamma synthesis was 1 1 % of
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Fetal Hemoglobin Synthesis in Erythroid Cultures in Hereditary Persistence of Fetal Hemoglobin and @#{176}-Thalassemia
To determine whether hemoglobin regulation is normal in diseases affecting 1-globin gene expression. globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/fi#{176}-thalassemia (HPFH/$#{176}-thal). The HPFH defect is the Ghanian type II. with a deletion from t’$ to at least 20 kb 3’ to . The / #{176}-thaI gene has the haplotype II restr...
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To determine whether hemoglobin regulation is normal in diseases affecting beta-globin gene expression, globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/beta o-thalassemia (HPFH/beta o-thal). The HPFH defect is the Ghanian type II, with a deletion from psi beta 1 to at least 20 kb 3' to beta. The beta o-thal gene has the haplotype...
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