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.
Artículo
en Chino
| WPRIM
| ID: wpr-879491
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
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
China
/
Prevalencia
/
Talasemia beta
/
Talasemia alfa
/
Genotipo
/
Mutación
Tipo de estudio:
Estudio de prevalencia
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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