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    A Guide For G6PD

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    shimeath delrosario
    G6PD deficiency is a genetic disorder caused by mutations in the G6PD gene resulting in reduced or absent G6PD enzyme activity. This enzyme normally protects red blood cells from damage but in G6PD deficiency red blood cells are prone to hemolysis when exposed to oxidative stress. Hemolysis leads to jaundice in newborns and can cause brain damage or death if not treated. G6PD deficiency is X-linked recessive so males are usually affected while females can be carriers. Affected individuals should avoid certain foods, herbs and medications to prevent hemolysis and seek medical help if signs of hemolysis occur.

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    A Guide For G6PD

    Uploaded by

    shimeath delrosario
    140 views4 pages
    G6PD deficiency is a genetic disorder caused by mutations in the G6PD gene resulting in reduced or absent G6PD enzyme activity. This enzyme normally protects red blood cells from damage but in G6PD deficiency red blood cells are prone to hemolysis when exposed to oxidative stress. Hemolysis leads to jaundice in newborns and can cause brain damage or death if not treated. G6PD deficiency is X-linked recessive so males are usually affected while females can be carriers. Affected individuals should avoid certain foods, herbs and medications to prevent hemolysis and seek medical help if signs of hemolysis occur.

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    What is G6PD

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    A Guide for G6PD

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    G6PD deficiency is a genetic disorder caused by mutations in the G6PD gene resulting in reduced or absent G6PD enzyme activity. This enzyme normally protects red blood cells from damage but in G6PD deficiency red blood cells are prone to hemolysis when exposed to oxidative stress. Hemolysis leads to jaundice in newborns and can cause brain damage or death if not treated. G6PD deficiency is X-linked recessive so males are usually affected while females can be carriers. Affected individuals should avoid certain foods, herbs and medications to prevent hemolysis and seek medical help if signs of hemolysis occur.

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    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    140 views4 pages

    A Guide For G6PD

    Uploaded by

    shimeath delrosario
    G6PD deficiency is a genetic disorder caused by mutations in the G6PD gene resulting in reduced or absent G6PD enzyme activity. This enzyme normally protects red blood cells from damage but in G6PD deficiency red blood cells are prone to hemolysis when exposed to oxidative stress. Hemolysis leads to jaundice in newborns and can cause brain damage or death if not treated. G6PD deficiency is X-linked recessive so males are usually affected while females can be carriers. Affected individuals should avoid certain foods, herbs and medications to prevent hemolysis and seek medical help if signs of hemolysis occur.

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    of 4

    Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

    What is Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency?


    Glucose-6-Phosphate Dehydrogenase (G6PD) is an enzyme which protects
    the red blood cells and prevents them from being damaged. People with
    G6PD deficiency usually have a normal health. But once they suffer from
    severe infection or are exposed to oxidative stimuli such as certain drugs,
    chemical agents, large amount of red blood cells will be damaged and
    broken down, leading to acute haemolysis. Bilirubin will be produced as
    the red blood cells are broken down during acute haemolysis, resulted in
    jaundice. Without timely treatment to the newborn babies with severe
    jaundice, excessive bilirubin levels in the blood may accumulate in the
    brain, leading to irreversible brain damage. Consequently, mental
    retardation, cerebral palsy and hearing deficit, or even death will occur.

    What are the causes of G6PD Deficiency?


    G6PD Deficiency is a genetic condition with an X-linked recessive
    inheritance, therefore males are more likely to be affected by this condition.
    In Hong Kong, the incidence of G6PD Deficiency is around 4.5% in males
    and 0.5% in females. Their brothers have 50% chance to be affected, while
    their sisters have 50% chance to be gene carriers.
    X-linked Recessive Inheritance
    What are the precautions should the affected people take？

    G6PD deficiency is an inheritable and life-long condition. There is no cure


    of the disease. In order to prevent acute hemolysis after exposure to
    oxidative stimuli, affected people should take the following lifelong
    precautions:

    1.* Avoid Chinese herbal medicines such as:

    Rhizoma Coptidis Flos Lonicerae

    (Huang Lien) (Kam Ngan Fa)

    Flos Chimonanthi Praecocis Calculus Bovis


    (Leh Mei Hua) (Niu Huang)

    Margaritas
    (Pearl powder)

    (e.g. Counter drugs such as Bo Ying Compound


    which contains Margaritas, etc.)
    2. * Avoid Western medicines such as:

    - Certain Antipyretics

    - Antibiotics such as:


    Nitrofurantoin
    Nalidixic acid
    Sulfamethoxazole
    - Antimalarials such as:
    Primaquine
    - Antispasmodics such as:
    Phenazopyridine

    * This list is not exhaustive. Please consult your doctor.

    3. Avoid eating fava or broad beans and their


    products.

    4. Avoid close contact Fava / Broad beans


    with mothballs
    (Naphthalene) and
    Naphthalene-
    containing products.
    Mothballs

    5. Mothers who are breastfeeding their babies with G6PD Deficiency


    should consult doctor before taking any Chinese or Western medicine.

    6. Pregnant ladies should inform their medical and nursing staff about
    any family history of G6PD Deficiency.
    What are the precautions should the affected people take？
    7. Inform your doctor or medical staff about your health condition during
    consultation, or show your G6PD deficiency alert card to your doctor.

    8. During hemolytic crisis, affected subjects will develop yellowish skin


    and mucosal membranes including the whites of the eyes. They may pass
    dark coloured urine.

    - ** Neonates may look pale, seem lacking energy and become


    excessively sleepy.
    - ** Older children or adults may complain of tiredness, breathlessness
    and rapid heartbeats.
    **Please consult your doctor without delay if the above signs and
    symptoms are observed.

    If the above precautions are taken, the affected people will enjoy normal growth and health.

    Hotline: 2361 9979 Genetic Screening Unit


    Clinical Genetic Service
    Website: http://www.cgs.dh.gov.hk
    Department of Health

    DH2289 Rev. 2016

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