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c+ceAR/Ce 患者的 alloanti-c/ce 表明罕见的 RHCE ceAR 等位基因(ceAR)编码部分 c 抗原。

Alloanti-c/ce in a c+ceAR/Ce patient suggests that the rare RHCE ceAR allele (ceAR) encodes a partial c antigen.

机构信息

National Reference Laboratory for Blood Groups, National Institute of Blood Transfusion, 20, rue Bouvier, BP 79,75522 Paris Cedex 11, France.

出版信息

Transfusion. 2009 Nov;49(11):2406-11. doi: 10.1111/j.1537-2995.2009.02308.x. Epub 2009 Jul 14.

Abstract

BACKGROUND

ceAR (RHCE ceAR) is a rare RH allele encountered in people of African/Caribbean ancestry, known to encode a partial e antigen. The homozygous ceAR/ceAR genotype encodes the rare blood group Hr-. This study describes alloanti-c/ce in a ceAR/Ce patient, suggesting that ceAR also encodes a partial c antigen.

CASE REPORT

A 21-year-old patient suffering from intermediate beta-thalassemia, with transfusion history, was hospitalized for severe anemia. Blood samples were referred to the National Reference Laboratory for suspicion of a mixture of alloantibodies or an alloantibody to a high-prevalence antigen.

MATERIALS AND METHODS

Standard hemagglutination methods were performed to investigate the patient's RBCs and serum. A molecular analysis of RHD and RHCE was carried out by allele-specific polymerase chain reaction and DNA sequencing.

RESULTS

Blood type performed by the referring laboratory was B, D+C+E-c+e+, K-. Several antibodies were identified: anti-c/ce, anti-Fy(b), anti-Jk(a), and anti-S. Full serologic investigations showed that anti-c/ce could be very likely considered as an alloantibody. The patient's genotype was ceAR/Ce. Anti-c/ce reacted with ceAR/ceEK, ceEK/ceEK, and ceAR/ceBI but not with ceAR/ceAR, ceMO/ceMO, and ce(s)(340)/ce(s)(340) RBCs.

CONCLUSION

This is the first case of alloanti-c/ce related to ceAR, suggesting that this rare RHCE allele encodes a partial c antigen. The presence of the C antigen in the patient allowed for the partial expression of the c antigen encoded by ceAR. The c antigen encoded by ceAR appeared to be different than that encoded by ceEK and ceBI and may share common lacking epitopes with the c antigens encoded by ceMO and ce(s)(340).

摘要

背景

ceAR(RHCE ceAR)是一种在非裔/加勒比裔人群中发现的罕见 RH 等位基因,已知其编码部分 e 抗原。ceAR/ceAR 纯合基因型编码罕见的血液组 Hr-。本研究描述了 ceAR/Ce 患者中的 alloanti-c/ce,提示 ceAR 还编码部分 c 抗原。

病例报告

一名 21 岁患有中间型β-地中海贫血、有输血史的患者因严重贫血住院。因怀疑存在混合 allo 抗体或高流行抗原的 allo 抗体,将血样送检至国家参考实验室。

材料和方法

采用标准血凝法检测患者 RBC 和血清。通过等位基因特异性聚合酶链反应和 DNA 测序进行 RHD 和 RHCE 的分子分析。

结果

送检实验室进行的血型鉴定为 B,D+C+E-c+e+,K-。鉴定出几种抗体:抗-c/ce、抗-Fy(b)、抗-Jk(a)和抗-S。全面的血清学调查显示,抗-c/ce 极有可能被视为 allo 抗体。患者的基因型为 ceAR/Ce。抗-c/ce 与 ceAR/ceEK、ceEK/ceEK 和 ceAR/ceBI 反应,但与 ceAR/ceAR、ceMO/ceMO 和 ce(s)(340)/ce(s)(340) RBC 不反应。

结论

这是首例与 ceAR 相关的 alloanti-c/ce 病例,提示该罕见 RHCE 等位基因编码部分 c 抗原。患者 C 抗原的存在允许 ceAR 编码的 c 抗原部分表达。ceAR 编码的 c 抗原似乎与 ceEK 和 ceBI 编码的 c 抗原不同,可能与 ceMO 和 ce(s)(340) 编码的 c 抗原共享共同缺失的表位。

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