BACKGROUND: The (C)ce(s) haplotype, mainly found in black individuals, contains two altered genes: a hybrid RHD-CE-D(s) gene segregated with a ce(s) allele of RHCE with two single nucleotide polymorphisms, c. 733C>G (p.Leu245Val) in exon 5 and c. 1006G>T (Gly336Cys) in exon 7. This haplotype could be responsible for false positive genotyping results in RhD-negative individuals and at a homozygous level lead to the loss of a high incidence antigen RH34. The aim of this study was to screen for the (C)ce(s) haplotype in Tunisian blood donors, given its clinico-biological importance. MATERIAL AND METHODS: Blood samples were randomly collected from blood donors in the blood transfusion centre of Sousse (Tunisia). A total of 356 RhD-positive and 44 RhD-negative samples were tested for the (C)ce(s) haplotype using two allele-specific primer polymerase chain reactions that detect c. 733C>G (p.Leu245Val) and c. 1006G>T (p. Gly336Cys) substitutions in exon 5 and 7 of the RHCE gene. In addition, the presence of the D-CE hybrid exon 3 was evaluated using a sequence-specific primer polymerase chain reaction. RESULTS: Among the 400 individuals only five exhibited the (C)ce(s) haplotype in heterozygosity, for a frequency of 0.625%. On the basis of the allele-specific primer polymerase chain reaction results, the difference in (C)ce(s) haplotype frequency was not statistically significant between RhD-positive and RhD-negative blood donors. DISCUSSION: These data showed the presence of the (C)ce(s) haplotype at a low frequency (0.625%) compared to that among Africans in whom it is common. Nevertheless, the presence of RHD-CE-D(s) in Tunisians, even at a lower frequency, should be considered in the development of a molecular genotyping strategy for Rh genes, to ensure better management of the prevention of alloimmunisation.
RCT Entities:
BACKGROUND: The (C)ce(s) haplotype, mainly found in black individuals, contains two altered genes: a hybrid RHD-CE-D(s) gene segregated with a ce(s) allele of RHCE with two single nucleotide polymorphisms, c. 733C>G (p.Leu245Val) in exon 5 and c. 1006G>T (Gly336Cys) in exon 7. This haplotype could be responsible for false positive genotyping results in RhD-negative individuals and at a homozygous level lead to the loss of a high incidence antigen RH34. The aim of this study was to screen for the (C)ce(s) haplotype in Tunisian blood donors, given its clinico-biological importance. MATERIAL AND METHODS: Blood samples were randomly collected from blood donors in the blood transfusion centre of Sousse (Tunisia). A total of 356 RhD-positive and 44 RhD-negative samples were tested for the (C)ce(s) haplotype using two allele-specific primer polymerase chain reactions that detect c. 733C>G (p.Leu245Val) and c. 1006G>T (p. Gly336Cys) substitutions in exon 5 and 7 of the RHCE gene. In addition, the presence of the D-CE hybrid exon 3 was evaluated using a sequence-specific primer polymerase chain reaction. RESULTS: Among the 400 individuals only five exhibited the (C)ce(s) haplotype in heterozygosity, for a frequency of 0.625%. On the basis of the allele-specific primer polymerase chain reaction results, the difference in (C)ce(s) haplotype frequency was not statistically significant between RhD-positive and RhD-negative blood donors. DISCUSSION: These data showed the presence of the (C)ce(s) haplotype at a low frequency (0.625%) compared to that among Africans in whom it is common. Nevertheless, the presence of RHD-CE-D(s) in Tunisians, even at a lower frequency, should be considered in the development of a molecular genotyping strategy for Rh genes, to ensure better management of the prevention of alloimmunisation.
Authors: H Moussa; M Tsochandaridis; T Chakroun; S Jridi; B Abdelneji; S Hmida; M Silvy; P Bailly; J Gabert; A Levy-Mozziconacci; Saloua Jemni-Yacoub Journal: Transfus Med Date: 2012-03-16 Impact factor: 2.019
Authors: G L Daniels; B H Faas; C A Green; E Smart; P A Maaskant-van Wijk; N D Avent; H A Zondervan; A E von dem Borne; C E van der Schoot Journal: Transfusion Date: 1998-10 Impact factor: 3.157