PDF(Pubmed)
Abstract：
BACKGROUND: Sickle cell disease (SCD) is the most important hemoglobinopathy worldwide. The treatment often requires phenotype-matched red blood cell (RBC) transfusions, but alloimmunization to non-ABO antigens may occur in a part of the SCD patients. The genotyping has been used for RBC antigen prediction, reducing the possibility of the alloimmunization.
OBJECTIVE: In this study we performed the genotyping for the Kell and RHCE blood groups in samples from 77 phenotyped Brazilian SCD patients, whose alloimmunization profiles were also assessed.
RESULTS: Discrepancies between genotyping and phenotyping for the RHCE and Kell blood groups systems were observed in 22.07% (17/77) of the SCD patients. We found C/c and E/e discrepancies in 11.68% and 9.09% of patients, respectively; one SCD patient (1.3%) presented a discrepancy in the Kell group. Two SCD patients with discrepancies between genotype and phenotype were alloimmunized. In total, twenty-eight patients (36.4%) developed alloantibodies, of which 55.17% were directed against antigens in the Rh system, 8.62% were directed against antigens in the Kell system and 36.20%, against other groups. Finally, the frequency of discrepancies is significantly higher in non-alloimmunized patients (30.61%), compared to alloimmunized patients (7.14%) (p = 0.0217).
CONCLUSIONS: In part, the alloimmunization of the SCD patients may have been triggered by these discrepancies, indicating that the integration of serological and molecular tests in the immunohematology routine could help to increase the transfusion safety. However, the higher number of alloimmunized patients without discrepancies showed that reasons other than the discrepancies appear to have influenced more strongly the alloimmunization in the SCD patients in this study.
OBJECTIVE: In this study we performed the genotyping for the Kell and RHCE blood groups in samples from 77 phenotyped Brazilian SCD patients, whose alloimmunization profiles were also assessed.
RESULTS: Discrepancies between genotyping and phenotyping for the RHCE and Kell blood groups systems were observed in 22.07% (17/77) of the SCD patients. We found C/c and E/e discrepancies in 11.68% and 9.09% of patients, respectively; one SCD patient (1.3%) presented a discrepancy in the Kell group. Two SCD patients with discrepancies between genotype and phenotype were alloimmunized. In total, twenty-eight patients (36.4%) developed alloantibodies, of which 55.17% were directed against antigens in the Rh system, 8.62% were directed against antigens in the Kell system and 36.20%, against other groups. Finally, the frequency of discrepancies is significantly higher in non-alloimmunized patients (30.61%), compared to alloimmunized patients (7.14%) (p = 0.0217).
CONCLUSIONS: In part, the alloimmunization of the SCD patients may have been triggered by these discrepancies, indicating that the integration of serological and molecular tests in the immunohematology routine could help to increase the transfusion safety. However, the higher number of alloimmunized patients without discrepancies showed that reasons other than the discrepancies appear to have influenced more strongly the alloimmunization in the SCD patients in this study.
摘要：
背景：镰状细胞病（SCD）是世界范围内最重要的血红蛋白病。治疗通常需要表型匹配的红细胞（RBC）输血，但非ABO抗原的同种免疫可能发生在部分SCD患者中。基因分型已用于红细胞抗原预测，降低同种免疫的可能性。
目的：在这项研究中，我们对来自77个表型巴西SCD患者的Kell和RHCE血型进行了基因分型，还评估了其同种免疫概况。
结果：在22.07%(17/77)的SCD患者中观察到RHCE和Kell血型系统的基因分型和表型分型之间的差异。我们发现11.68%和9.09%的患者存在C/c和E/e差异，Kell组分别有1例SCD患者(1.3%)出现差异。对基因型和表型之间存在差异的两名SCD患者进行同种免疫。总的来说,28名患者(36.4%)出现同种抗体,其中55.17%针对Rh系统中的抗原，8.62％针对Kell系统中的抗原，36.20％针对，对其他群体。最后,差异的频率在非同种免疫患者中明显更高(30.61%)，与同种免疫患者相比（7.14%）（p=0.0217）。
结论：部分，SCD患者的同种免疫可能是由这些差异引发的，表明在免疫血液学常规中整合血清学和分子检测有助于提高输血安全性。然而,无差异的同种免疫患者数量较多,这表明,在本研究中,除差异外,其他原因似乎对SCD患者的同种免疫产生了更强烈的影响.
目的：在这项研究中，我们对来自77个表型巴西SCD患者的Kell和RHCE血型进行了基因分型，还评估了其同种免疫概况。
结果：在22.07%(17/77)的SCD患者中观察到RHCE和Kell血型系统的基因分型和表型分型之间的差异。我们发现11.68%和9.09%的患者存在C/c和E/e差异，Kell组分别有1例SCD患者(1.3%)出现差异。对基因型和表型之间存在差异的两名SCD患者进行同种免疫。总的来说,28名患者(36.4%)出现同种抗体,其中55.17%针对Rh系统中的抗原，8.62％针对Kell系统中的抗原，36.20％针对，对其他群体。最后,差异的频率在非同种免疫患者中明显更高(30.61%)，与同种免疫患者相比（7.14%）（p=0.0217）。
结论：部分，SCD患者的同种免疫可能是由这些差异引发的，表明在免疫血液学常规中整合血清学和分子检测有助于提高输血安全性。然而,无差异的同种免疫患者数量较多,这表明,在本研究中,除差异外,其他原因似乎对SCD患者的同种免疫产生了更强烈的影响.
