[Analysis of Gene Mutation Types of Thalassemia in Longyan Area of Fujian Province in China].

Objective: To explore the type and distribution of thalassemia gene mutation in Longyan area of Fujian province in China, so as to provide a evidence for prenatal diagnosis and to reduce birth defects.

Methods: The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin electrophoresis were used for screened the mutation types of thalassemia. Genotyping of the screened positive sample was performed by gap single polymerase chain reaction (gap-PCR) and reverse dot blot hybridization (RDB).

Results: Out of 7823 cases of routine positive blood test, 2826 cases were positive (36.12%) by using hemoglobin electrophoresis; 1905 out of 2710 cases were diagnosed as Mediterranean anemia by genetic test, with 24.35% of carrying rate; 1225 cases were positive alpha thalassaemia and the carrying rate was 15.66%, their major genetic types were --/αα,-α/αα,-α/-- and -α/αα, with carrying rate of 12.91%, 1.28%, 0.51% and 0.74%, respectively; 632 cases were positive β thalassaemia, with carrying rate of 8.08%, the major genotypes were 654M/N,41-42M/N,17M/N,-28M/N and 27-28M/N and with carrying rate of 3.66%, 2.22%, 0.78%, 0.66% and 0.45%, respectively; 48 cases were diagnosed as both α- and β-thalassemia, with the carrying rate of 0.61%.

Conclusion: The main gene mutation types of α- and β-thalassemia in Longyan area of Fujian Province in China were --/aa and 654 M/N. As thalassemia gene mutation prevalents in Fujian, the screening of thalassemia genotypes for childbearing age woman has great significance for raising population quality.