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New RHCE*ce variant allele in African descent holds 105C>T (silent) in cis to 48C in Exon 1 and 733G in Exon 5

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T he Rh system is encoded by RHD and RHCE genes, and the most clinically important antigens encoded by these genes areD, C, c, E, and e antigens. The expression… Click to show full abstract

T he Rh system is encoded by RHD and RHCE genes, and the most clinically important antigens encoded by these genes areD, C, c, E, and e antigens. The expression of these antigens can be affected by genetic events such as single or multiple missense mutations, insertions, deletions, duplications, or gene conversion. These molecular events are responsible for more than 500 Rh alleles associated with weak, partial, or null phenotypes that have been reported to the International Society of Blood Transfusion (ISBT). RHD and RHCE variant alleles can be inherited alone or in combination and can cause difficulties when transfusing people of African descent, especially patients with sickle cell disease in chronic transfusion therapy. Here, we report a new RHCE allele composed of a combination of previously described polymorphisms c.48G>C (p.Trp16Cys), c.105C>T (silent) and c.733C>G (p.Leu245Val). This new allele has been submitted to GenBank with accession number MK487132.

Keywords: 105c silent; rhce; new rhce; african descent; rhce variant

Journal Title: Transfusion
Year Published: 2019

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