Gene detection and hematological analysis of β-thalassemia CD41-42 heterozygote compound deletional α- thalassemia

Objective: To investigate the prevalence and analyze the clinical hematological data of β-thalassemia(β-thal) CD41-42 (-TCTT) heterozygote(β41-42 heterozygote) compound deletional α-thal in this area. Methods: α-thal genes and β-thal genes were detected by single-tube complex PCR and reverse dot blotting(RDB), respectively. The analysis of blood corpuscle and the other thal screening tests were generally used. Results : 8 cases were identified to compound with α-thal in 144 β 41-42 heterozygote cases, including 7 cases (4.9%) compound α-thal-1(αα/-- SEA ) and 1 case(0.69%) compound deletional HbH gene(-α 3.7 /-- SEA ). The MCV of the 7 cases compoundα-thal-1 were all higher than the average MCV (63.53fl) of the 136 β 41-42 heterozygote cases. The HbH section couldn't be found in the case which compounds the HbH gene by the pH8.6 and the pH 6.5 Hemoglobin electrophoresis method. Conclusions: We can't only depend on the clinical symptoms and the routine lab examination results on diagnosing the β 41-42 heterozygote compound α-thal patients.