Study of the genotypic and hematological feature of hemoglobin H disease in West Guangxi area / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1326-1330, 2020.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-879491
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the incidence, genotype and hematological feature of hemoglobin H (HbH) disease in West Guangxi region.@*METHODS@#A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled. Red blood cell parameters, hemoglobin electrophoresis, Gap-polymerase china reaction (Gap-PCR) and polymerase chain reaction-reverse dot blot (PCR-RDB) techniques were used to detect the 6 common α-thalassemia mutations and 17 common β-thalassemia mutations. The results were compared with those of other regions.@*RESULTS@#The detection rate for HbH disease was 5.66%. Among the 1246 patients, 614 (49.28%) had deletion-type HbH disease, including -α @*CONCLUSION@#The prevalence of HbH disease is high in West Guangxi region, and the main genotypeis non-deletion. α
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
China
/
Prevalence
/
Beta-Thalassemia
/
Alpha-Thalassemia
/
Genotype
/
Mutation
Type of study:
Prevalence study
Limits:
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Document type:
Article