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Blood Transfus. 2014 Jul;12(3):396-404. doi: 10.2450/2013.0121-13. Epub 2013 Dec 4.

A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi'an.

Author information

1
Shaanxi Blood Centre, Xi'an, Shanxi, China.
2
Shenzhen Blood Centre, Shenzhen, Guangdong, China.
3
Dalian Medical University, Dalian, Liaoning, China.
4
Department of Transfusion, The Second People's Hospital of Shenzhen, The Second People's Hospital of Shenzhen, Guangdong, China.

Abstract

BACKGROUND:

This study is a comprehensive analysis of RHD in D-negative phenotypes in saline, in Xi'an, Shanxi province, central China.

MATERIAL AND METHODS:

DCcEe in saline was measured for each blood sample from every donor between January 2008 and June 2012 in the Xi'an Blood Centre, China. D-negative results were confirmed by an indirect antiglobulin test and further investigated by adsorption-elution as required. The initial step of molecular analysis was RHD zygosity testing. Then RHD was detected by a sequence-specific polymerase chain reaction system for RHD(1227G>A), weak D type 15, and RHD(711delC) alleles for the samples carrying at least one RHD. For the remaining non-identified samples, ten RHD exons were amplified using a previously widely used RHD coding region sequencing method. Some RHD/RHCE conversion alleles were identified while those remaining were submitted to direct sequencing.

RESULTS:

Overall, 2,493 D-negative samples in saline were detected in a total of 890,403 donors (D-negative rate, 0.28%). Among the D-negative individuals, RHD deletion (d/d) was assessed in 1685 donors (67.59%). Non-functional RHD alleles were detected in 184 donors (7.38%), the most common being the RHD-CE(2-9)-RHD and RHD(711delC) alleles. Two new alleles were observed and family investigations were performed; RHD(1227G>A) DEL was detected in 516 individuals (20.70%), and weak D or partial D variants were identified in 108 donors (4.33%). The most common alleles were weak D type 15, D(VI) type 3 and D(V) type 2. Four new weak D alleles were noted, and two cases of RHD(1227G>A)/weak D type 15 heterozygosity were confirmed.

CONCLUSIONS:

Currently, it seems to be difficult to observe any new RHD alleles in the Han Chinese population. D prediction in this population is easier because popular alleles are dominant, accounting for about 99.80% of alleles in D-negative people. Weak D types and partial D variants are rare and occur in approximately 0.01% of the population.

PMID:
24333088
PMCID:
PMC4111822
DOI:
10.2450/2013.0121-13
[Indexed for MEDLINE]
Free PMC Article

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