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DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.

Mamy NgoleValerie RaceGloire MbayaboPaul LumbalaCathy SongoProsper Tshilobo LukusaKoenraad DevriendtGert MatthijsAimé Z Lumaka
Published in: Journal of clinical laboratory analysis (2022)
The implemented DNA-based test approach overcomes the limitations faced by hemoglobin-based tests, while being more affordable. We propose to implement the RFLP test as a first line diagnostic test after transfusion and as second tiers for newborn screening. However, users should be aware that this test is unable to differentiate HbC from HbS or identify other point mutation of gene deletion of HBB gene.
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