Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina

TRUCCO BOGGIONE, CAROLINA; NOGUÉS, NÚRIA; GONZALEZ-SANTESTEBAN, CECILIA; MUFARREGE, NICOLÁS; LUJÁN BRAJOVICH, MELINA ELIANA; MATTALONI, STELLA MARIS; LERI, MÓNICA; BIONDI, CLAUDIA; MUÑIZ-DÍAZ, EDUARDO; CASTILHO, LILIAN; COTORRUELO, CARLOS

TRANSFUSION

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Londres; Año: 2019

0041-1132

BACKGROUND: A notably RHD variability has been observed in Central Argentina´s current population attributed to the intermixing of different ethnic groups. The Northwestern region of the country is characterized by a markedly Amerindian genetic contribution. In this sense, the definition of the RHD polymorphism in individuals from this area was lacking. STUDY DESIGN AND METHODS: A total of 757 donors from Northwestern Argentina, with D negative C and/or E positive (n=526) and D variant (n=231) phenotype defined by standard hemmaglutination tube techniques were genotyped using in-house PCRs strategies, commercial SNPs arrays and Sanger sequencing. RESULTS: Among D negative C and/or E positive samples, RHD null (15.40%) and DEL alleles (3.23%) were identified. One unreported SNP c.1001T>A responsible for a null allele was found. RHD*01N.75 (4.18%) and RHD*DEL43 (2.66%) were the most prevalent variants following RHD*03N.01 (8.75%). The characterization of serologic weak D phenotypes showed that RHD*weak D type 1, 2 and 3 variants were found only in 37.24% of the samples, whereas RHD*weak D type 93 was the most prevalent allele (25.11%). Also, a previously unreported missense variation c.764G>A was identified. CONCLUSIONS: A RHD genotyping strategy for patients and donors from Northwestern Argentina must consider the detection of the frequently found RHD*01N.75, RHD*DEL43 and RHD*weak D type 93 variants. Taking into account that RHD*DEL43 has scarcely been found in North Americans and Europeans whereas RHD*01N.75 and RHD*weak D type 93 have never been described in populations other than Argentineans, these RHD variants could be attributed to Native Amerindian genetic influence.