<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Patient samples were referred to our immunohematology reference laboratory to investigate the presence of a weak D antigen. In the last 3 years, 26 samples were received. Serology and molecular analyses were performed to identify the weak D variant. <italic>RHD</italic> mRNA from all patients was reverse transcribed, and cDNA was sequenced. The results were compared with a normal <italic>RHD</italic> sequence to identify the polymorphisms causing the weak D phenotype. Five different already known <italic>RHD</italic> variants were observed: weak D type 1 (5 individuals), weak D type 2 (1 individual), weak D type 42 (17 individuals), weak D type 45 (1 individual), and partial D DNB (2 individuals). Surprisingly, weak D type 42 was prevalent in our population, whereas weak D type 1, 2, and 3 are the most prevalent variants elsewhere. Anti-D was found in six cases of weak D type 42. The higher prevalence of weak D type 42 could be the result of a founder effect. Additional studies are needed to estimate the frequency of this variant in the general population. <italic><bold>Immunohematology</bold></italic><bold>2011;27:20–24.</bold></p></abstract>

Patient samples were referred to our immunohematology reference laboratory to investigate the presence of a weak D antigen. In the last 3 years, 26 samples were received. Serology and molecular analyses were performed to identify the weak D variant. RHD mRNA from all patients was reverse transcribed, and cDNA was sequenced. The results were compared with a normal RHD sequence to identify the polymorphisms causing the weak D phenotype. Five different already known RHD variants were observed: weak D type 1 (5 individuals), weak D type 2 (1 individual), weak D type 42 (17 individuals), weak D type 45 (1 individual), and partial D DNB (2 individuals). Surprisingly, weak D type 42 was prevalent in our population, whereas weak D type 1, 2, and 3 are the most prevalent variants elsewhere. Anti-D was found in six cases of weak D type 42. The higher prevalence of weak D type 42 could be the result of a founder effect. Additional studies are needed to estimate the frequency of this variant in the general population. Immunohematology2011;27:20–24.

Weak D type 42 cases found in individuals of European descent

Immunohematology

{"article-title":"Weak D type 42 cases found in individuals of European descent"}

Patient samples were referred to our immunohematology reference laboratory to investigate the presence of a weak D antigen. In the last 3 years, 26 samples...

Weak D type 42 cases found in individuals of European descent

Article Category: Case Report

Pubblicato online: 01 dic 2019

Pagine: 20 - 24

DOI: https://doi.org/10.21307/immunohematology-2019-170

© 2011 M. St-Louis, et al., published by Sciendo