Objective: To study the present situation of thalassemia among people at reproductive age in Guilin city.
Methods: A complete red blood cell mean cell volume (RBCMCV) was detected as well as hemoglobin electrophoresis analysis were done for all samples. Suspected alpha or beta thalassemia cases, were screened out and alpha and beta thalassemia genes were detected by PCR-RDB.
Results: Among 1580 cases, 79 cases were detected a thalassemia gene positive, with the detection rate as 5.00%. The detection rates on a thalassemia were 5.32%, 4.68% in males and females, but no significant difference (chi2 = 3.04, chi2 < chi0.05 (1) = 3.84, P > 0.05). 114 cases were detected carrying beta thalassemia gene with the detection rate as 7.22%. The detection rates on beta thalassemia were 7.85%, 6.58% in males and females, with no significant difference (chi2 = 0.95, chi2 < chi0.05(l) = 3.84, P > 0.05). The overall detection rate of thalassemia was 12.22% (193/1580). Alpha thalassemia were found to have had ten genotypes, with --SEA/alphaalpha the most common one and the detection rate was 3.54%. -Alpha(3.7)/alphaalpha appeared the majority in the static alpha thalassemia and --SEA/alphaalpha took the majority in the light a thalassemia, while --SEA-alphaCS was the major one in the intermedia alpha thalassemia, with gene contributions of 7.59%, 70.88% and 2.53%. Beta thalassemia was detected having seven genotypes,with CD41-42 (-TTCT) the most common one in beta thalassemia, and the detection rate was 3.16%. The commonly seen three mutations, CD41-42 (-TTCT), CD17 (A-->T) and IVS-II-654 (C-->T) were accounted for 87.71% of beta thalassemia. The detection rate on thalassemia a and beta combination was 0.63%.
Conclusion: The detection rate of thalassemia among people at productive age in Guilin city was relatively high.