Genotypes and clinical features of 595 children with HbH disease in Guangxi, China / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 908-911, 2015.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-279027
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the genotypes and clinical features of children with HbH disease in Guangxi Zhuang Autonomous Region, China.</p><p><b>METHODS</b>A 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.</p><p><b>RESULTS</b>Among 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.</p><p><b>CONCLUSIONS</b>Deletional 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.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Hemoglobina H
/
Talassemia alfa
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Reação em Cadeia da Polimerase Multiplex
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Genética
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Genótipo
Limite:
Adolescente
/
Criança
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Criança, pré-escolar
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Feminino
/
Humanos
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Lactente
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Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2015
Tipo de documento:
Artigo