ABSTRACT
OBJECTIVE@#To study the hematologic and molecular features of 14 patients with hemoglobin (Hb) variants, so as to provide reference data for its laboratory screening.@*METHODS@#A total of 1 029 samples were screened by high performance liquid chromatography (HPLC) on the Bio-Rad VariantⅡHPLC system. GAP-PCR and reverse dot blot (RDB) were used to detect common mutation of α and β globin gene in Chinese. DNA sequencing for α and β globin gene was simultaneously performed in samples with abnormal spectrum peak and negative thalassemia gene.@*RESULTS@#In 1 029 samples, 10 types of structural Hb variants were detected in14 cases (1.36%), including 1 case of Hb E / β- thalassemia, 1 case of Hb E /α- thalassemia (HbH disease), 2 cases of HbG-Taipei, 2 cases of Hb Q-Thailand, 2 cases of Hb Youngstown, 1 case of Hb Guangzhou-Hangzhou, 1 case of Hb M-Boston, 1 case of Hb G-Siriraj, 1 case of Hb J-Baltimore, 1 case of Hb J-Sicilia and 1 case of Hb Tamano.@*CONCLUSION@#The occurrence of abnormal structural Hb variants with many genotypes in Shanghai is unique. Except for Hb E, Hb Youngstown, and Hb M-Boston, other types of heterozygous are normal in phenotypes, and symptoms such as hemolysis and anemia often occur when other diseases are combined.
Subject(s)
Humans , China , Genotype , Hemoglobins, Abnormal/genetics , Phenotype , alpha-Thalassemia , beta-Globins/geneticsABSTRACT
Objective To detect the argyrophilic proteins in nucleolar organizer regions(Ag-NORs) that express rDNA and rRNA proliferation of T lymphocytes before chemotherapy and after complete remission(CR) in children with primary acute leukemia(AL).Methods The argyrophilic granules area of NOR/nuclear area(I.S%) of T lymphocytes was detected by image analysis system in peripheral blood of 42 patients before chemotherapy and after CR and 30 normal children.Results I.S% in the patients before chemotherapy(5.06%?1.36%) were significantly lower than those in the healthy donors(7.51%?1.06%)(t=8.238 P0.05).Conclusion These results suggest that decrease of Ag-NORs expresses the evidence for tumour induced suppression of immune function of T cells in children with AL prior to treatment.