CAJ | 학술논문

目的分析血红蛋白Constant Spring(hemoglobin Constant Spring,HbCS)携带者基因型和表现型的关系,探讨HbCS对血液学指标的影响规律.方法检测HbCS携带者的血常规和血红蛋白电泳.采用跨越断裂点-PCR、反向点杂交方法确认α-、β-地中海贫血(以下简称地贫)突变.结果 HbCS合并--SEA/αα或HbQS表现为HbH病的特征,与αCSα/-α或HbCS杂合子比较,差异有显著的统计学意义.αCSα/-α与HbCS杂合子对表型的影响较小.HbCS合并β地中海贫血,其血液学表型表现为β地贫的特征.上述各型变异阳性病例中,仅有57.6%的样品血红蛋白电泳检测为阳性结果.结论 HbCS杂合子与其它类型地贫突变合并存在时,不同基因型组合可出现较大差异的表型变化.另外,对此类复合地贫仅用血红蛋白电泳较易漏诊和误诊,对其确诊需要依赖基因型分析.
목적 분석혈홍단백Constant Spring(hemoglobin Constant Spring,HbCS)휴대자기인형화표현형적관계,탐토HbCS대혈액학지표적영향규률.방법 검측HbCS휴대자적혈상규화혈홍단백전영.채용과월단렬점-PCR、반향점잡교방법학인α-、β-지중해빈혈(이하간칭지빈)돌변.결과 HbCS합병--SEA/αα혹HbQS표현위HbH병적특정,여αCSα/-α혹HbCS잡합자비교,차이유현저적통계학의의.αCSα/-α여HbCS잡합자대표형적영향교소.HbCS합병β지중해빈혈,기혈액학표형표현위β지빈적특정.상술각형변이양성병례중,부유57.6%적양품혈홍단백전영검측위양성결과.결론 HbCS잡합자여기타류형지빈돌변합병존재시,불동기인형조합가출현교대차이적표형변화.령외,대차류복합지빈부용혈홍단백전영교역루진화오진,대기학진수요의뢰기인형분석.
Objective To analyze the genotype-phenotype correlations in the Hb Constant Spring (HbCS) carriers, and to investigate the effect of HbCS on hematologic parameters. Methods 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. Results 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 αCS α/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. Conclusion 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.