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Abstract
Providing appropriately matched red blood cell concentrates for patients in need of transfusions is one of the main tasks of transfusion medicine. Donors and recipients with rare blood groups, especially those outside of the routinely screened ABO, Rhesus and Kell systems are at an increased risk for developing or causing transfusion reactions because their blood types are not routinely tested for and matched RBCs are rarely available at a regional level. Being able to provide blood products matched for these rare blood types is especially important for patients with an increased need for transfusions over a long period e.g. those with thalassemia and sickle cell anemia. This standard of care is required by current guidelines. This project screened more the 2000 blood donors for their genotype in 21 coding locations for the P1/P2, Lan(-), Yt(a)/Yt(b), Co(a)/Co(b), Do(a)/Do(b), Lu(a)/Lu(b), Lu8/Lu14, Au(a)/Au(b), Fy(a)/ Fy(b), Fy(0), Sc1/Sc2, M/N, K/k, Kp(a)/Kp(b), Js(a)/Js(b), Côte/Wk(a), Vel(+)/Vel(+)w/Vel(-), Jk(a)/Jk(b), Di(a)/Di(b) and Wr(a)/Wr(b) blood types. TaqMan®PCR and PCR-SSP assays could be validated for all loci and screened genotype could be determined for all donors. Statistical analysis and comparison with a European reference population from a large exome screening study (where available) showed no significant difference between the screened donors and the reference except for two loci which code for the Fy(0) type with high differences in worldwide distribution and the Lu14 antigen with little associated data so far. A cost-effective screening process could be established for the screening of further donors for the blood types named above. By integrating this screening process into the routine workflow for in-house donors at the Institute for Transfusion Medicine and Immunology rare blood type blood can now be provided on a regional level.
Document type: | Dissertation |
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Supervisor: | Bugert, Prof. Dr. Peter |
Place of Publication: | Heidelberg |
Date of thesis defense: | 20 May 2021 |
Date Deposited: | 15 Jul 2021 07:10 |
Date: | 2021 |
Faculties / Institutes: | Medizinische Fakultät Mannheim > Institut für Transfusionsmedizin und Immunologie |
DDC-classification: | 600 Technology (Applied sciences) 610 Medical sciences Medicine |
Controlled Keywords: | Blutgruppe, Bluttransfusion, Genotypisierung, Blutspender, Genotyp, Register, Polymerase-Kettenreaktion, Genamplifikation |