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.
Article
in Chinese
| 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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Hemoglobins
/
Hemoglobins, Abnormal
/
Beta-Thalassemia
/
Alpha-Thalassemia
/
Genetics
/
Genotype
/
Heterozygote
Limits:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2010
Type:
Article
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