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Molecular-biological investigations for determining blood groups

Tadeja Dovč Drnovšek1

1Blood Transfusion Centre Of Slovenia, Ljubljana, Slovenia

In practice, blood group antigens (Ag) and antibodies (Ab) are still determined by serology. Due to various reasons sometimes the use of molecular-biological methods are necessary and the only option to get the final result. The aim of the abstract is to present a brief overview of the molecular-biological methods used in transfusion medicine [1,2].

Molecular causes of blood group diversity and detection
Beside insertions, deletions, gene conversion, cross-over and recombination, the single nucleotide polymorphisms are the main and most common causes of molecular blood group diversity [3-6]. Because of the simple molecular mechanisms the polymerase chain reaction using sequence-specific primers (PCR-SSP) is still the most commonly used method. Advanced methods are real-time PCR, digital PCR, sequencing, high performance liquid chromatography, microarrays and matrix assisted laser desorption-time of flights. The latter methods are used for high-throughput screening [2,7].

Clinical applications
The use of the molecular-biological methods in transfusion medicine:

a) Patient genotyping:
- recently transfused patients
- positive direct Coombs test
- resolving of serological problems of Ag and blood group determination
- testing Ab not available
- to distinguish between allo- and auto-Ab
- to confirm the presence of Ab in post-transfusion thrombocytopenia, refractoriness to platelet transfusions, neonatal alloimmune thrombocytopenia
- to confirm the presence of Ab in the neonatal alloimmune neutropenia and transfusion related acute lung injury.

b) Blood donors genotyping:
- resolving of serological problems of Ag and blood group determination
- selection of rare blood donors
- testing Ab not available
- donor register
- population studies.

c) Prenatal diagnostics:
- in pregnant women to distinguish between weak and partial RhD
- fetal genotyping in women with an immune antibody and the risk of hemolytic disease of the fetus and the newborn:
  - from amniotic fluid
  - from the maternal peripheral blood using cell-free fetal DNA
- determination of partner RHD zygosity in women with anti-RhD Ab
- fetal RHD genotyping in RhD-neg pregnant women in order to avoid antenatal prophylaxis with immunpglobulin anti-RhD.

The serological status and clinical diagnosis of the tested person influenced to the choice of used molecular-biological methods and interpretation of the results. The future challenge is the selection of appropriate technology for mass genotyping of blood donors.

1. Storry JR, et al (2004) Br J Haematol 126(6),pp.759-71.
2. Telen M. (2014) Hematologist 11(6),pp.4-5.
3. Westhoff CM. (2006) Curr Opin Hematol 13(6),pp.471-5.
4. Denomme GA (2011) Transfus Apher Sci 44,pp.53-63.
5. Curtis BR. (2014) Vox Sang 106(2),pp.93–102.
6. Bux J. (2008) Vox Sang 94(4):pp.277-85.
7. Meyer S, et al. (2014) Transfusion 54(12),pp.3198-207.

2006 - University of Ljubljana, Faculty of Medicine, Center for Functional Genomics and Bio-chips.