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1.
Journal of Experimental Hematology ; (6): 211-216, 2022.
Article in Chinese | WPRIM | ID: wpr-928695

ABSTRACT

OBJECTIVE@#To investigate the hematological characteristics and genotype distribution of thalassemia among people at reproductive age in Chongqing.@*METHODS@#Hematology analysis and capillary electrophoresis were performed in 29 145 participants at reproductive age. The patients with positive results were confirmed by thalassemia genotyping. Genotype distribution and characteristics of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hba2 levels in thalassemia patients were analyzed.@*RESULTS@#--SEA/αα (45.10%), -α3.7/αα (39.31%) and -α4.2/αα (8.46%) were the most common genotypes of α-thalassemia, while CD17 (HBB: c. 52A>T) (31.67%), CD41-42 (HBB: c. 126-129 del TTCT) (26.87%) and IVS-Ⅱ-654 (HBB: c. 316-197 C>T) (24.21%) were the most common genotypes of β-thalassemia in Chongqing. In α-thalassemia ααCS/αα showed the lowest hba2 value (2.18±0.23)%, while --SEA/αα showed the lowest MCV (71.9±8.5) fl and MCH (22.7±3.3) pg value. The patients in βE (HBB: c. 79G>A) group showed comparatively higher values of MCV and MCH and significantly lower HbA and hba2 values than the other genotypes. There was no significant difference in HbA, hba2, MCV, MCH levels of the patients between pregnant group and non-pregnant group.@*CONCLUSIONS@#In Chongqing, there are differences in hematological characteristics among patients with different thalassemia genotypes. There is no significant effect of pregnancy on HbA, hba2, MCV and MCH has been found.


Subject(s)
Female , Humans , Pregnancy , China , Erythrocyte Indices , Genotype , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia
2.
Journal of Experimental Hematology ; (6): 1312-1315, 2020.
Article in Chinese | WPRIM | ID: wpr-827120

ABSTRACT

OBJECTIVE@#To investigate the influence of iron deficiency on the index of thalassemia screening.@*METHODS@#876 blood samples of the couples at childbearing age, who underwent red blood cell analysis, hemoglobin electrophoresis, ferritin and gene diagnosis were selected. The samples were divided into normal, iron deficiency, αthalassemia, α-thalassemia combining with iron deficiency, β-thalassemia and β-thalassemia combining with iron deficiency group. The differences of hematology index and hemolobin value A2 between each groups were analyzed.@*RESULTS@#The value of Hb, MCV, MCH, MCHC in iron deficiency, αthalassemia, α-thalassemia combining with iron deficiency, β-thalassemia and β-thalassemia combining with iron deficiency group all were lower than that of normal group, while the value of RDW-CV was higher, in which the difference between β-thalassemia was the highest. The distribution of HbA2 among each groups was not significantly different expect of β-thalassemia. There was no significant correlation between HbA2 and ferritin level.@*CONCLUSION@#RDW-CV increases in both iron deficiency and thalassemia. Iron deficiency has no significant effect on the level of hemoglobin A2.


Subject(s)
Humans , Anemia, Iron-Deficiency , Erythrocyte Indices , Ferritins , Hemoglobin A2 , beta-Thalassemia
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