BEUDAMED
    FDA Adverse Event Malfunction Summary report: N

    HEA 1.2 BEADCHIP KIT, SLIDE

    MDR report key: 12324478 · Received August 16, 2021

    Report

    Report Number
    3005967741-2021-00003
    Event Type
    Malfunction
    Date Received
    August 16, 2021
    Date of Event
    July 15, 2021
    Report Date
    August 26, 2021
    Manufacturer
    BIOARRAY SOLUTIONS LTD.
    Product Code
    PEP
    UDI-DI
    10888234100065
    PMA / PMN Number
    BP130026
    Product Problem
    Yes
    Report Source
    Manufacturer report
    Reporter Location
    GR
    Reporter Occupation
    OTHER

    Narratives

    Additional Manufacturer Narrative · 0

    INTERPRETATION: MOLECULAR PRESENCE OF GUANINE AT THE POLYMORPHIC SITE, C.230G, OF THE BCAM GENE ENCODING THE LUTHERAN (LU) ANTIGENS, REPRESENTS A HOMOZYGOUS LUB INDIVIDUAL1, AS WAS REPORTED BY HEA BEADCHIP HEAI9054_8. SEQUENCING OF BCAM GENE INTRON 2, EXONS 3, 5 AND 6 DID NOT IDENTIFY POLYMORPHISMS ASSOCIATED WITH THE LU NULL PHENOTYPES2 . THE KLF1 GENE, WITH 3 EXONS, ENCODES THE ERYTHROID KRÜPPEL-LIKE FACTOR 1 (OR EKLF1). ALTHOUGH THE EKLF1 IS NOT A BLOOD GROUP ANTIGEN, IT IS KNOWN THAT VARIATIONS IN THE KLF1 GENE ARE ASSOCIATED WITH THE IN(LU) PHENOTYPES, WHICH ARE CHARACTERIZED BY REDUCED EXPRESSION OF THE LU ANTIGENS2 . THE KLF1 GENE OF THE SAMPLE WAS ALSO PCRAMPLIFIED AND SEQUENCED USING BOTH IN-HOUSE DESIGN AND THE SINGLETON DESIGN3 . THE SAMPLE IS HETEROZYGOUS C/G AT THE POLYMORPHIC SITE, RS3817621, LOCATED AT 210 NUCLEOTIDES UPSTREAM OF THE TRANSCRIPTION START SITE. THIS KLF1 VARIANT IS KNOWN TO BE ASSOCIATED WITH RETICULOCYTE FRACTION OF THE RED CELLS4 . SEQUENCING OF EXONS 1 AND 3 DID NOT IDENTIFY ANY POLYMORPHISMS ASSOCIATED WITH IN(LU) PHENOTYPES2 . HOWEVER, USE OF THREE DIFFERENT PRIMER PAIRS, INCLUDING THE IN-HOUSE AND THE SINGLETON DESIGNS, COULD NOT AMPLIFY THE FRAGMENT BETWEEN THE INTRON 1 AND THE 3' END OF EXON 2, WHICH SUGGESTS PRESENCE OF UNKNOWN POLYMORPHISMS IN THIS REGION OF THE KLF1 GENE ASSOCIATED WITH THE IN(LU) PHENOTYPES2. IN SUMMARY, THIS SAMPLE MAY HAVE A NOVEL KLF1 VARIANT WITH HETEROZYGOUS C/G AT RS3817621 AND UNKNOWN POLYMORPHISMS IN BETWEEN INTRON 1 AND EXON 2, WHICH COULD BE RELATED TO LACK OF LUB EXPRESSION. THE KLF1 VARIANTS FOR THE IN(LU) PHENOTYPES ARE NOT DETECTABLE IN THE HEA BEADCHIP ASSAY AS DESCRIBED IN THE PACKAGE INSERT.

    Description of Event or Problem · 0

    THE CUSTOMER REPORTED A POSSIBLE DISCREPANCY. THE DONOR IS K+ USING THE BIOARRAY HEA MOLECULAR BEADCHIP KIT; SEROLOGY RESULTS WERE K-.

    Description of Event or Problem · 1

    THE CUSTOMER REPORTED A POSSIBLE DISCREPANCY. THE DONOR IS K+ USING THE BIOARRAY HEA MOLECULAR BEADCHIP KIT; SEROLOGY RESULTS WERE K-.

    Devices

    Seq Brand Generic Product Code Manufacturer Model Lot UDI-DI
    1220347 HEA 1.2 BEADCHIP KIT, SLIDE HEA 1.2 BEADCHIP KIT, SLIDE PEP BIOARRAY SOLUTIONS LTD. 800-20202-08 19-393-C 10888234100065

    Patients

    Seq Age Sex Outcome Treatment
    1 Life Threatening