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Published on: September 6, 2017
[Differential Diagnosis of Three Commonest Deletion β-Thalassemia in Chinese]
Ji-Cheng Wang1, Cui-Ze Yao1, Yan-Lin Huang1
1Medical Genetics Center, Guangdong Women and Children Hospital, Maternal and Children Metabolic-Genetic Key Laboratory, Guangzhou 511442, Guangdong Province,China.
Objective:
To analyze the hematological characteristics of Chinese Gγ+(Aγδβ)0-thalassemia,SEA-HPFH and Taiwan type β-thalassemia.
Methods:
Hemoglobin electrophoresis and blood routine test were used to analyze the hematological indexes of all peripheral blood samples,PCR-Flow fluorescent hybridization and Gap-PCR were used to detect the globin gene mutations and the data were analyzed statistically.
Results:
The 3 types of deletion β- Thalassemia patients were showed as hypochromic small cell anemia. The MCH and MCV values of Taiwan type β-thalassemia patients were the lowest. The results of hemoglobin electrophoresis showed that the increasing of HbF was found in all of the 3 types. Except for the decreasing of Hb A2 in Chinese Gγ+(Aγδβ)0-thalassemia,the levels of Hb A2 in the other two deletion β-thalassemia patients were significantly increased. Except for Hb, there were significant differences in MCV, MCH, Hb A2 and HbF between Chinese Gγ+(Aγδβ)0-thalassemia and SEA-HPFH(P<0.001).
Conclusion:
Through analyze the hematological characteristics, it can be provide that the guidance for the differential diagnosis and genetic consultation of the three commonest deletion β-thalassemia in Chinese.
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