Hematologic parameters and genotype analysis in 166 children with HbH disease in the North Guangxi region / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 267-270, 2012.
Article
em Zh
| WPRIM
| ID: wpr-320668
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To study the characteristics of genotype spectrum and hematologic parameters in children with HbH disease in the North Guangxi region.</p><p><b>METHODS</b>HbH disease was identified by clinical manifestations, routine blood tests and hemoglobin electrophoresis in 166 children who came form the North Guangxi region. Genotypes were determined by Multi-PCR combined with PCR reverse dot blot. DNA sequencing was used when the genotype could not be identified by regular methods.</p><p><b>RESULTS</b>Of the 166 children with HbH disease, 8 genotypes were identified --SEA/-α3.7 (82 cases), --SEA/-α4.2 (40 cases), --SEA/αCSα (38 cases), --SEA/αQSα (1 case), --SEA/αWSα (1 case), --SEA/αCD43/44 (-C) α (1 case), --SEA/-α3.7 plus CD17 (A→T) (1 case) and --SEA/-α4.2 plus CD41-42(-TTCT) (1 case). One case was confirmed as the heterozygote of --SEA and an unknown mutation. In the 134 cases with complete medical data, 2 had normal hemoglobin levels, 36 manifested mild anemia, 90 manifested moderate anemia, and 6 (genotype --SEA/αCSα) showed severe anemia because of the coexistence of infection. Children with the genotype of --SEA/-α3.7 (69 cases), --SEA/-α4.2 (31 cases) and --SEA/αCSα (34 cases) had hemoglobin levels of 62-120, 69-127 and 34-110 g/L respectively. The hemoglobin level in the --SEA/αCSα group was significantly lower than in the deletional HbH disease group (genotypes --SEA/-α3.7 and --SEA/-α4.2 ) (P<0.05). In contrast, MCV levels in the --SEA/αCSα group were significantly higher than in the deletional HbH disease group (P<0.05).</p><p><b>CONCLUSIONS</b>The genotype spectrum of HbH disease is diverse in the North Guangxi region. Deletional genotype is prevalent. The disease is heterogeneous. The children with --SEA/αCSα HbH disease have severer anemia and higher MCV levels than those with deletional HbH disease.</p>
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Índice:
WPRIM
Assunto principal:
Sangue
/
Hemoglobina H
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China
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Talassemia alfa
/
Genética
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Genética Populacional
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Genótipo
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2012
Tipo de documento:
Article