Haematological ananlysis of 56 cases with αβ-thalassemia

ObjectiveTo investigate the detection rate,genotype and haematological characteristics of αβ-thalassemia in Zhongshan area.MethodsThe thalassemia screening results of children,pregnant women and couples for premarital check-up were retrospectively analyzed in our hospital from Jan of 2009 to May of 2010.Hemoglobin electrophoresis was used to detect genes for those patients with MCV82 fl and MCH27 pg.Reverse dot blot and Gap-PCR were used to detect 17 common β-thalassemia gene mutations and α-thalassemia respectively.ResultsAmong 3532 cases,56 were identified to be αβ thalassemia(1.58%).Among them,45 cases were β-thalassemia combined with α-thalassemia-1 gene,6 cases were β-thalassemia combined with rightward deletion,4 cases were β-thalassemia combined with leftward deletion and 1 case was β-thalassemia combined with HbH.Sixteen genotype of β-thalassemia combined with α-thalassemia were detected.ConclusionsThe detection rate of αβ-thalassemiai in ZhongShan area was 1.58%.Different patients had different hematologic parameters.MCV and Hemoglobin electrophoresis examinations alone for αβ-thalassemia will lead to miss-diagnosis and misdiagnosis,suggesting the importance of developing high performance liquid chromatography(HPLC) and detecting α-thalassemia and β-thalassemia genes at the same time in the high incidence area of thalassemia.