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  • Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency

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    Blueash Beh
    114 tayangan18 halaman
    G6PD deficiency is an X-linked recessive trait caused by mutations in the G6PD gene on the X chromosome. It is tested for using a fluorescent spot test on dried blood spots, which classifies samples as normal, intermediate, or deficient based on enzyme activity. For males, an intermediate result is generally treated as deficient. For females, an intermediate result could indicate heterozygosity, so repeating the test is recommended, ideally using enzyme activity testing which has better detection of mild deficiencies than fluorescence. The guidelines provide details on specimen collection, handling, storage, and interpretation of results.

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    G6PD deficiency is an X-linked recessive trait caused by mutations in the G6PD gene on the X chromosome. It is tested for using a fluorescent spot test on dried blood spots, which classifies samples as normal, intermediate, or deficient based on enzyme activity. For males, an intermediate result is generally treated as deficient. For females, an intermediate result could indicate heterozygosity, so repeating the test is recommended, ideally using enzyme activity testing which has better detection of mild deficiencies than fluorescence. The guidelines provide details on specimen collection, handling, storage, and interpretation of results.

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    114 tayangan18 halaman

    Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency

    Diunggah oleh

    Blueash Beh
    G6PD deficiency is an X-linked recessive trait caused by mutations in the G6PD gene on the X chromosome. It is tested for using a fluorescent spot test on dried blood spots, which classifies samples as normal, intermediate, or deficient based on enzyme activity. For males, an intermediate result is generally treated as deficient. For females, an intermediate result could indicate heterozygosity, so repeating the test is recommended, ideally using enzyme activity testing which has better detection of mild deficiencies than fluorescence. The guidelines provide details on specimen collection, handling, storage, and interpretation of results.

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    © All Rights Reserved
    Unduh sebagai PPTX, PDF, TXT atau baca online dari Scribd
    Tandai sebagai konten tidak pantas
    dari 18

    Glucose 6 phosphate

    dehydrogenase
    (G6PD)deficiency
    BEH BOON PING

    outline
    Inheritance
    Specimen taking process
    Specimen interpretation
    Outcome of G6PD intermediate from journal
    Concensus proposal

    Inheritance G6PD
    Most Common inherited Human Enzyme deficiency
    X linked recessive trait. distal long arm X chromosome
    Mainly male will inherited the disease
    However, female will sometime has G6PD
    deficiency/intermediate because of
    mosaicism(mutation) of X chromosome leading to
    partial deficiency will not easy to detect with screening
    test. Or Lyonization of X linked chromosome.

    How screening in detecting ? STEPS


    Labour room/OT to Lab
    Prepare filter papers put on the blood samples
    Let Filter papers to dry
    View under fluorescence
    View the spots under long-wave UV light.
    Classify samples as normal, intermediate, or deficient.
    Dispose of or store filter papers.

    WHO guideline

    How collection been done? If


    suggest for repetition.
    Collection WHO
    all protocols recommend use of venous blood.
    There are not sufficient data to recommend the use of
    capillary blood in fluorescent spot assays.
    Use of ethylenediaminetetraacetic acid (EDTA) or acid-citratedextrose (ACD) anticoagulants is acceptable.

    WHO guideline

    Handling specimen after collection.


    Specimen handling
    Before receiving and processing samples, ensure that they
    were properly stored after collection and during shipping (if
    applicable). Samples must have been refrigerated between
    2C and 8C.
    No clotting observed.
    Less than 1 week since draw date.

    WHO guideline

    Equipement needed?

    WHO guideline

    WHO guideline

    WHO guideline

    G6PD classification

    http://www.aafp.org/afp/2005/1001/p1277.html

    Set Back for Fluroscence test?


    The glucose-6-phosphate dehydrogenase (G6PD)
    fluorescent spot test (FST) is a useful screening test for
    G6PD deficiency, but is unable to detect heterozygote
    G6PD-deficient females.

    WHO guideline

    To repeat or not to repeat IF G6PD


    intermediate newborn?
    Male, rarely will get intermediate except inherited
    Mosacism X Chromosome from mother/ random
    mutation which is rare General Rule Treat as
    deficient.
    However for female, Heterozygous has been noted in x
    chromosome and mutation cases do report in x
    chromosome of female Ideally should repeat
    But with same fluorescence method or gold standard
    enzyme activity?

    Journal MJPCH 2010 (Dec); Vol. 1; Supplementary 2

    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY by UMMC


    Laboratory team January 2011

    What influences the result findings?

    Consideration as enzyme activity test has limited


    center doing if repeat G6PD with Fluoroscence test
    Repeated G6PD intermediate: If repeated Intermediate
    Treat as deficiency
    Repeated G6PD intermediate: If repeated NORMAL
    Treat as normal or deficient as fluorescence test cannot
    detect mild G6PD deficiency

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