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    G6PD (Fawad Khan)

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    fawadkhanisb786

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    G6PD (Fawad Khan)

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    fawadkhanisb786
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    G6PD (Fawad Khan)

    Uploaded by

    fawadkhanisb786

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 20

    Glucose-6-Phosphate Dehydrogenase(G6PD)

    FAWAD KHAN
    2
    Objectives:

     Introduction.
     Etiology (cause).
     Pathophysiology(mechanism).
     Triggers.
     Symptoms.
     Treatment.
     Diagnosis & Tests.
    Fawad Khan
    3
    Introduction:

     G6PD(Glucose-6-phosphate dehydrogenase) is an enzyme found in the


    cytoplasm of all cells in the body. It plays a vital role in the prevention of
    cellular damage from reactive oxygen species (ROS).
     Erythrocytes are particularly in danger to ROS due to their role in oxygen
    transport and their inability to replace cellular proteins as mature cells.
     This may be caused by stress or exposure to certain foods that contain high
    amounts of oxidative substances, for example, fava beans, or certain
    medications.
     Inherited deficiencies of G6PD can result in acute hemolytic anaemia during
    times of increased production.
    Fawad Khan
    4
    Continue.

     Inherited deficiencies of G6PD can result in acute hemolytic anaemia during times of
    increased production.
     In particular, anti-malarial agents have a strong association with inducing hemolytic
    anaemia in patients with G6PD deficiency.

    Hemolytic Anemia:
    Hemolytic Anemia is a condition where
    red blood cells are destroyed faster than they are produced, leading to a shortage of red
    blood cells. This can be due to various factors including autoimmune disorders, genetic
    conditions, infections medications, etc.
    Fawad Khan
    5
    Etiology:

    o The etiology of G6PD is genetic. It is an X-linked recessive hereditary condition, which means it is passed from parents to
    offspring.
    o Men who inherit the mutated gene will have G6PD deficiency, while women who carry one copy of the gene can pass it to their
    children.

    Males: Females:

    • have one X chromosome • have 2X chromosomes ( may be homozygous or


    • so they will be diseased if they have the heterozygous)
    affected gene XY
    Homozygous: are diseased XX
    Heterozygous: are not diseased BUT Carriers XX kids)

    Fawad Khan
    6
    Pedigree chart:

    Fawad Khan
    7
    Continue:

     There are currently known human G6PD mutations and most are point mutations affecting a single nucleotides.
     G6PD deficiency is the most common enzyme deficiency in the world, affecting around 400 million people
    globally.
     It's caused by mutations in the G6PD gene, which is located on the long arm of the X chromosome.

    Fawad Khan
    8
    Pathophysiology:

     G6PD is the catalyst in the rate-limiting first step of the pentose phosphate pathway,
    which uses glucose-6-phosphate to convert NADP into its reduced form, NADPH.
     In red blood cells, NADPH is critical in preventing damage to cellular structures
    caused by ROS.
     It does this by serving as a substrate for the enzyme glutathione reductase. Reduced
    glutathione can be used to convert hydrogen peroxide to water and prevent damage to
    cellular structures, particularly the cell wall of red blood cells (RBCs) since they have
    limited capacity for repair once mature.

    Fawad Khan
    9

    Fawad Khan
    10
    Triggers:

     Drugs such as ( antibiotics, malaria, aspirin, some anti-cancer medicines and large doses of vitamin C)
     Infections (Bacterial and viral infections, hepatitis A and B, typhoid fever, and
    pneumonia)
     Foods (Fava beans, legumes, soybeans, peanuts, peas, and foods with artificial food
    dyes)
     Other chemicals (Mothballs (naphthalene) and pollen from fava plants)
     Emotional stress

    Fawad Khan
    11
    Continue:

    Fawad Khan
    12
    Foods:

     Fava beans
     falafel
     chickpeas
     broad beans
     green peas
     peanuts
     lentils
     black eyed peas

    Fawad Khan
    13
    Drugs:

    Fawad Khan
    14
    Symptoms:

     rapid heart rate


     shortness of breath
     urine that is dark or yellow-orange
     fever
     fatigue
     dizziness
     paleness
     jaundice, or yellowing of the skin and whites of the eyes

    Fawad Khan
    15
    Diagnosis:

     Diagnosis:

    Healthcare providers typically start by taking a


    complete medical history. They might ask if you’ve recently changed
    medications or had an infection. They might ask if anyone else in your
    family shows signs of G6PD deficiency.

    Fawad Khan
    16
    Tests:

     Complete blood count (CBC).


     Bilirubin levels: This is a blood test.
     Reticulocyte count: This blood test measures your young blood cells to see if your
    bone marrow is producing enough red blood cells.
     Serum aminotransferases: This test checks on an enzyme in your liver.
     Peripheral blood smear: This blood test involves checking for changes in the
    number, type, shape and size of blood cells.

    Fawad Khan
    17
    Treatment:

     Most people do not need any treatment — they can manage their condition by avoiding the triggers.
     Babies with jaundice are usually treated with phototherapy (light therapy). This involves being placed under special
    lights. In severe cases, a treatment known as ‘exchange transfusion’ may be needed.
     If you buy medicine without a prescription, talk to your pharmacist, tell them you have G6PD deficiency and read
    the label carefully. You should also be careful about using any herbal and alternative medicines, as some of these
    may also trigger acute hemolytic anaemia.
     Having a virus or infection can stress the body and lead to hemolysis in people with G6PD deficiency. See your
    doctor if you or your child develops an infection.

    Fawad Khan
    18
    Complications:

     The main complication of G6PD deficiency is acute hemolytic anaemia, which occurs
    after exposure to a trigger.
     A common form of acute hemolytic anaemia is known as favism, which develops if a
    person with G6PD deficiency eats fava beans. After eating fava beans, acute
    hemolytic anaemia can develop rapidly.
     People with favism are always G6PD-deficient, but not all people with G6PD
    deficiency react this strongly to fava beans. Children are more likely to experience
    favism.

    Fawad Khan
    19
    References:

     https://www.ncbi.nlm.nih.gov/books/NBK470315/
     https://www.healthdirect.gov.au/G6PD-deficiency
     https://www.healthline.com/health/glucose-6-phosphate-dehydrogenase-deficiency

    Fawad Khan
    20

    Fawad Khan

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