Genotypes and clinical features of 595 children with HbH disease in Guangxi, China.
- Author:
Sheng HE
1
;
Qiang ZHANG
;
Bi-Yan CHEN
;
Peng HUANG
;
Yan-Qing TANG
;
Yuan WEI
;
Qiu-Li CHEN
;
Chen-Guang ZHENG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Child; Child, Preschool; Female; Genotype; Hemoglobin H; genetics; Humans; Infant; Male; Multiplex Polymerase Chain Reaction; alpha-Thalassemia; genetics
- From: Chinese Journal of Contemporary Pediatrics 2015;17(9):908-911
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the genotypes and clinical features of children with HbH disease in Guangxi Zhuang Autonomous Region, China.
METHODSA total of 595 children from Guangxi were recruited. Single-tube multiplex polymerase chain reaction combined with agarose gel electrophoresis, as well as reverse dot blotting, were performed to detect the three α-globin gene deletion mutations (--(SEA), -α(3.7), and -α(4.2)) and three non-deletion mutations (Hb Westmead, Hb Constant Spring, and Hb Quong Sze) which are common in the Chinese population.
RESULTSAmong the 595 cases, five common genotypes were identified, which were --(SEA)/-α(3.7) (232 cases), --(SEA)/α(CS)α (174 cases), --(SEA)/-α(4.2) (122 cases), --(SEA)/α(WS)α (35 cases), and --(SEA)/α(QS)α (24 cases). The genotype of THAI deletion associated with α-thalassemia-2 was detected in eight cases. Six β-mutations including CD41-42, CD17-28, CD26, IVS-II-654, IVS-I-1, and CD27-28 were identified in 23 cases. All children with HbH disease had microcytic hypochromic anemia; children with HbH-CS disease had the most severe anemia, and those with HbH-WS disease had the mildest anemia.
CONCLUSIONSDeletional HbH disease is the main type in children with HbH disease in Guangxi, and some patients also have mild beta-thalassemia. Non-deletional HbH disease shows more severe phenotype than deletional HbH disease.