Spectrum of gene deletion in 471 children with α-thalassemia.
- Author:
Ye-Hui LIN
1
;
Lian FAN
;
Zhang ZHANG
;
Zhi-Wei PAN
;
Chun-Lin SONG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Child; Child, Preschool; Erythrocyte Indices; Female; Gene Deletion; Gene Frequency; Humans; Infant; Infant, Newborn; Male; alpha-Thalassemia; blood; etiology; genetics
- From: Chinese Journal of Contemporary Pediatrics 2012;14(4):264-266
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the distribution of common α-thalassemia gene deletion in children.
METHODSBlood cell analysis was performed on children who visited the clinic of the Foshan Women and Children's Hospital. Blood samples (2 mL, EDTA anticoagulant) was collected from children with MCV<82 fl for analysis of α-thalassemia gene using the GAP-PCR method.
RESULTSMCV<82 fl was found in 1341 children. Of the 1341 children, 471 (35.1%) were diagnosed with α-thalassemia. The prevalence of α-thalassemia increased with increasing age. --SEA was a major type of α-thalassemia gene deletion (75.3%), followed by -a3.7 (17.0%) and -a4.2 (7.7%) in the 471 patients. The top three genotypes were --SEA/aa (73.2%), aa/-a3.7 (12.5%) and --SEA/-a3.7 (5.5%).
CONCLUSIONSGenetic testing is necessary for the diagnosis of α-thalassemia in children with MCV<82 fl. --SEA is a common type of α-thalassemia gene deletion, and -SEA/aa is a common gene type of α-thalassemia in the subjects of this study.
