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| Molecular epidemiology and blood phenotype analysis of IVS-Ⅱ-654 point mutation β-thalassemia in Qingyuan，Guangdong Province |
| LIN Jinduan1 LIU Hongwei2 WANG Dandan3 YIN Weiguo1 LIU Qian1 LIU Yanmei1 HUANG Zhengyong1 LI Jiehua1 |
1.Department of Clinical Laboratory, the Sixth Affiliated Hospital to Guangzhou Medical University Qingyuan People′s Hospital, Guangdong Province, Qingyuan 511500, China;
2.Department of Blood Transfusion Room, the Sixth Affiliated Hospital to Guangzhou Medical University Qingyuan People′s Hospital, Guangdong Province, Qingyuan 511500, China;
3.Department of Gynaecology and Obstetrics, the Sixth Affiliated Hospital to Guangzhou Medical University Qingyuan People′s Hospital, Guangdong Province, Qingyuan 511500, China |
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Abstract Objective To investigate Guangdong Qingyuan District IVS-Ⅱ-654 point mutations beta thalassaemia (hereinafter referred to as the "654 M beta lean") gene and genotype combination characteristic, and analysis the features of red blood cell parameters, provide a reference for better screening and prevention to poor data. Methods From January 2014 to September 2015, 6760 samples of geologically deficient gene diagnosis in the Outpatient Department of Qingyuan People′s Hospital were collected. According to the age of the subjects, the samples were divided into infant group (3 years old), child group (＞ 3 years old-18 years old), and adult group (≥18 years old). Gap-PCR amplification was used to detect 3 common deletion geoimpoverished genes (-α3.7/、-α4.2/、--SEA/). PCR- membrane reverse point hybridization (PCR-RDB) was used to detect 17 mutated geoimpoverished genes. And the genotypes of 654 M β. Routine blood test was used to observe the red blood cell count (RBC), hemoglobin (Hb) concentration, red blood cells deposited (Hct), mean red cell volume (MCV), mean red blood cell hemoglobin content (MCH) and red blood hemoglobin concentration (MCHC) 6 indicators, the influence of factors such as gender, age of 654 Mβ gene carriers on the red blood cell parameters was analyzed, with the fourth edition of the national clinical laboratory operation rules, 654 M heterozygote and healthy red blood cell parameters of the similarities and differences were observed. Results ①Among the investigated population, the total carrier rate of 654M was 4.79% (324/6760), including 256 cases of 654M heterozygote (3.79%), 52 cases of 654M complex ground poverty (0.77%), and 16 cases of 654M complex ground poverty (0.24%). There was no statistically significant difference in the 654M heterozygote and 654M complex α (P ＞ 0.05). Infants and toddlers group 654 M compound β to lean gene carrying rate was higher than children series, the difference was statistically significant (P ＜ 0.05), in not currently found 654 M compound other β to lean gene genotypes, 654 M heterozygote. ②654 M compound α to lean gene and 654 M composite β to a poverty of three genotypes of RBC, Hb, Hct influence size order for 654 M compound β to lean heterozygous ＞ 654 M＞654 M compound alpha to lean (all P ＜ 0.05), but the three gene combinations of MCV, MCH, MCHC differences had no statistical significance (P ＞ 0.05). ③The red blood cell parameters of 654M heterozygous carriers in different groups were higher in male RBC, Hb, Hct than in adult female, male infants and male children, and the differences were statistically significant (P ＜ 0.05), while the differences in red blood cell parameters between other groups were not statistically significant (P ＞ 0.05). ④Compared with healthy people, male 654M heterozygous blood phenotype was mainly reflected in RBC increased, MCV, MCH, MCHC decreased (all P ＜ 0.05); Hb and Hct were in the critical low value (all P ＞ 0.05). The Hb, Hct, MCV, MCH and MCHC of female heterozygote 654M were decreased (all P ＜ 0.05). RBC′s were at a critical high (P ＞ 0.05). Conclusion In qingyuan area 654M, the parameters of 654M deficient erythrocytes in different gene combinations are quite different. Adult male 654M RBC, Hb, Hct are significantly different from infants, children and adult females, so it is necessary to pay attention to the distinction when setting the critical value of screening indicators.
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