Association Analysis between Genotype and Phenotype of α,β-Thalassaemia Carriers in Huizhou Area of Guangdong Province / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1133-1137, 2023.
Article
in Zh
| WPRIM
| ID: wpr-1009970
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the prevalence, genotype distribution and hematological characteristics of α,β-thalassaemia carriers in Huizhou area of Guangdong Province.@*METHODS@#10 809 carriers of simple β-thalassaemia and 1 757 carriers of α,β-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis. Suspension array technology, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot blot were used for the genotyping of thalassaemia carriers.@*RESULTS@#The prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province was 1.99%. A total of 62 genotypes were detected, and the most prevalent genotype was --SEA/ αα, βCD41-42/ βN (19.29%), the next was --SEA/ αα, βIVS-II-654/ βN (16.73%). Significant differences in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were found between different genotype groups for simple β-thalassaemia and α,β-thalassaemia. Violin plots showed that carriers with co-inheritance of β-thalassaemia and mild α-thalassaemia expressed the lightest anemia, and carriers with co-inheritance of β-thalassaemia and hemoglobin H (Hb H) disease expressed the most severe anemia.@*CONCLUSION@#There is a high prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province. Because of the lack of specific hematological makers for diagnosis of α,β-thalassaemia, it is necessary to distinguish it from simple β-thalassaemia by genotyping of α- and β-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
/
China
/
Beta-Thalassemia
/
Alpha-Thalassemia
/
Genotype
/
Heterozygote
/
Mutation
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Asia
Language:
Zh
Journal:
Journal of Experimental Hematology
Year:
2023
Type:
Article