Analysis of the phenotype-genotype relationship of Hb Constant Spring / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 481-483, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-234378
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the genotype-phenotype correlations in the Hb Constant Spring (HbCS) carriers, and to investigate the effect of HbCS on hematologic parameters.</p><p><b>METHODS</b>Complete blood cell count and hemoglobin electrophoresis analyses were performed in 125 HbCS cases. The α-and β-thalassemia mutations were determined by reverse dot-blotting and Gap-PCR.</p><p><b>RESULTS</b>The presence of the SEA deletion or Hb Quong Sze (HbQS) with HbCS leads to HbH-CS disease. There was significant difference between HbH-CS and αCSα/-α, HbH-CS and αCSα/αα in the hematological parameters. The genotype of αCSα/-α or αα/αCSα had slight effect on hematological parameters. When the Hb Constant Spring mutation co-existed with heterozygous β-thalassemia, the hematological characteristics of β-thalassemia was presented. Only 57.6% of carriers with HbCS were detected by hemoglobin electrophoresis.</p><p><b>CONCLUSION</b>The cases with co-existence of HbCS trait and other α-thalassemia trait, or β-thalassemia trait, showed variation in their red blood cell parameters. For such compound heterozygotes for HbCS and other α- or β-thalassaemia mutations, which were usually misdiagnosed in clinical screening by hemoglobin electrophoresis, accurate diagnose can be made by molecular diagnosis.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Hemoglobinas
/
Hemoglobinas Anormais
/
Talassemia beta
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Talassemia alfa
/
Genética
/
Genótipo
/
Heterozigoto
Limite:
Adolescente
/
Adulto
/
Idoso
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2010
Tipo de documento:
Artigo
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