Phenotype and genotype analysis of hemoglobin E / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the genotype and phenotype correlation in the hemoglobin E (HbE) carriers, and to investigate the effect of HbE on hematological parameters.</p><p><b>METHODS</b>The capillary electrophoresis was used to screen total 14 141 samples and blood cell analysis was further processed to the HbE carrying samples. Gap-PCR and reverse dot blot hybridization method were used for the detection of Chinese common mutation of α and β thalassemia.</p><p><b>RESULTS</b>There is a statistical difference in hematological phenotype index (HGB, MCV, MCH, HbE, HbA(2)) between samples of HbE heterozygous (53 samples), HbE homozygous (2 samples), HbE composite α thalassemia (α-thal, 7 samples) and HbE composite β thalassemia (β-thal, 8 samples). Among the four groups, HbE heterozygous \[HGB (122.7 ± 19.99) g/L, MCV (78.65 ± 5.03) fl\] and HbE composite α-thal \[HGB (113.6 ± 22.68) g/L, MCV (73.50 ± 7.73) fl\] had slight effect on hematological parameters, but HbE composite β-thal \[HGB (76.4 ± 12.30) g/L\], MCV (59.23 ± 5.28) fl\] had the heaviest effect on hematological parameters.</p><p><b>CONCLUSION</b>Co-existence of HbE heterozygous and other type thalassemias showed variation in their hematological phenotype, so patients should be informed of genetics in prenatal diagnosis.</p>