title: Distribution of Rhesus blood group antigens and weak D alleles in the population of Albania.
abstract: BACKGROUND
  Determination of Rhesus (Rh) status is of critical importance in the field of both transfusion and obstetric medicine. As the distribution of Rh phenotypes was unknown in the Albanian population, we investigated the donor population in Albania to estimate the prevalence of each phenotype, as well as to identify and characterise the variants at the molecular level.
  
  
  METHODS
  A total of 38,836 blood donors were phenotyped for Rh D, C, c, E and e antigens by routine serological methods, and samples with reduced D antigen expression underwent molecular characterisation by a Tm-shift genotyping method and direct sequencing.
  
  
  RESULTS
  Among all donors 89.00% and 10.86% were D-positive and D-negative, respectively, while 0.14% (n=55) of the donors were found to be weak D-positive. Overall 45/55 samples (81.8%) were resolved by Tm-shift screening, showing that approximately 67% of the variant D alleles were weak D type 1, while weak D type 3 (9.1%) and weak D type 2 (3.6%) were less common. A novel c.932A>G (p.Y311C) variant was also found in the heterozygous state by direct sequencing.
  
  
  CONCLUSIONS
  This extensive study reveals the distribution of Rh phenotypes in the Albanian population, the low prevalence of individuals with a weak D phenotype, and the specific pattern of distribution of the three most common variant alleles in this Caucasian population.
authors: National Blood Transfusion Centre, Tirana, France Faculty of Natural Sciences, Department of Biology, Tirana, Albania, France.
authors: Merita
authors: M
authors: Xhetani
authors: National Blood Transfusion Centre, Tirana, France.
authors: Irena
authors: I
authors: Seferi
authors: French Blood Institute (EFS-Bretagne), Brest, France National Institute of Health and Medical Research (Inserm U1078), Brest, France Faculty of Medicine and Health Sciences, University of West Bretagne, Brest, France Molecular Genetics and Histocompatibility Laboratory, Regional University Hospital (CHRU), Morvan Hospital, Brest, France.
authors: Claude
authors: C
authors: Férec
authors: Faculty of Natural Sciences, Department of Biology, Tirana, Albania, France.
authors: Grigor
authors: G
authors: Zoraqi
authors: French Blood Institute (EFS-Bretagne), Brest, France National Institute of Health and Medical Research (Inserm U1078), Brest, France.
authors: Yann
authors: Y
authors: Fichou
mesh_terms: D000415:Albania; D000483:Alleles; D001782:Blood Donors; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen