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    g6pd Deficiency

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    Habib Ullah
    G6PD deficiency is an inherited disorder where a lack of the enzyme G6PD causes red blood cells to be damaged and destroyed when exposed to certain chemicals or during infections, leading to hemolytic anemia. It is caused by an abnormal gene on the X chromosome, making it more common in males. Triggers for hemolytic anemia include some anti-malarial and antibiotic drugs, aspirin, medicines for arthritis, as well as mothballs and fava beans. Symptoms include fatigue, paleness, shortness of breath, rapid heart rate, jaundice and dark urine. Treatment involves removing the trigger and sometimes blood transfusions.

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    g6pd Deficiency

    Uploaded by

    Habib Ullah
    220 views2 pages
    G6PD deficiency is an inherited disorder where a lack of the enzyme G6PD causes red blood cells to be damaged and destroyed when exposed to certain chemicals or during infections, leading to hemolytic anemia. It is caused by an abnormal gene on the X chromosome, making it more common in males. Triggers for hemolytic anemia include some anti-malarial and antibiotic drugs, aspirin, medicines for arthritis, as well as mothballs and fava beans. Symptoms include fatigue, paleness, shortness of breath, rapid heart rate, jaundice and dark urine. Treatment involves removing the trigger and sometimes blood transfusions.

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    G6PD deficiency is an inherited disorder where a lack of the enzyme G6PD causes red blood cells to be damaged and destroyed when exposed to certain chemicals or during infections, leading to hemolytic anemia. It is caused by an abnormal gene on the X chromosome, making it more common in males. Triggers for hemolytic anemia include some anti-malarial and antibiotic drugs, aspirin, medicines for arthritis, as well as mothballs and fava beans. Symptoms include fatigue, paleness, shortness of breath, rapid heart rate, jaundice and dark urine. Treatment involves removing the trigger and sometimes blood transfusions.

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    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    220 views2 pages

    g6pd Deficiency

    Uploaded by

    Habib Ullah
    G6PD deficiency is an inherited disorder where a lack of the enzyme G6PD causes red blood cells to be damaged and destroyed when exposed to certain chemicals or during infections, leading to hemolytic anemia. It is caused by an abnormal gene on the X chromosome, making it more common in males. Triggers for hemolytic anemia include some anti-malarial and antibiotic drugs, aspirin, medicines for arthritis, as well as mothballs and fava beans. Symptoms include fatigue, paleness, shortness of breath, rapid heart rate, jaundice and dark urine. Treatment involves removing the trigger and sometimes blood transfusions.

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    G6PD Deficiency

    G6PD deficiency is an inherited disorder. Lack of the enzyme G6PD means that red
    blood cells can be damaged and destroyed when the person is exposed to some
    chemicals (including some medicines) or during some infections. This can lead to
    moderate or severe haemolytic anaemia ('anaemia' means low levels of red blood
    cells, and 'haemolytic' means destroyed red blood cells).
    Red blood cells are continuously being made in the bone marrow. Blood cells that
    are lost due to G6PD deficiency are replaced over the few weeks following the
    damage.

    What is G6PD?

    • G6PD, or Glucose-6-phosphate dehydrogenase, is an enzyme that is made in red


    blood cells.
    • G6PD helps the body turn carbohydrates into energy.
    • G6PD also helps protect red blood cells from 'oxidative' stress. Oxidative chemicals
    are made when some medicines are taken, when the body is exposed to some
    chemicals, or when the immune system is working hard to fight an infection.

    Causes of G6PD deficiency

    • G6PD deficiency is an inherited disorder. The gene for it is on the X chromosome.


    o Females have two X chromosomes. If a female has the abnormal gene for G6PD on
    one of her X chromosomes, the other X chromosome with the normal gene can make
    enough G6PD, and she will not have the problem. If the female has two abnormal
    genes, she will have a G6PD deficiency.
    o Males have only one X chromosome, so if they have the abnormal gene, they will
    have the disorder. Therefore G6PD deficiency is much more common in males than
    females.
    • The abnormal gene is most common in people from Africa, Mediterranean region,
    and South-East Asia.

    Triggers for haemolytic anaemia

    • Medicines that can trigger damage to the red blood cells include anti-malaria drugs,
    antibiotics that contain sulphur, aspirin and some medicines used for arthritis.
    • It can also be triggered by naphthalene (in moth balls) and fava beans (sometimes
    G6PD deficiency is called 'favism').

    Effects of G6PD deficiency


    • Between episodes of anaemia, the person is completely healthy. In fact, having
    G6PD deficiency gives some protection against malaria.
    • The signs of haemolytic anaemia include:
    o fatigue (tiredness)
    o paleness (in dark-skinned people, this may be most easily seen inside the mouth, on
    the tongue or lips)
    o shortness of breath
    o rapid heart rate
    o jaundice (yellowing of the skin and eyes)
    o dark urine.
    • If a person has an episode of haemolytic anaemia
    o the trigger needs to be removed (eg. the medicine stopped or the infection treated).
    o sometimes a transfusion of red blood cells is needed.

    Further reading
    KidsHealth 'G6PD deficiency'
    http://kidshealth.org/PageManager.jsp?dn=KidsHealth&lic=1&ps=107&cat_id=130&a
    rticle_set=20828
    MedlinePlus Medical Encyclopedia 'Glucose 6 Phosphate-dehydrogenase deficiency'
    http://www.nlm.nih.gov/medlineplus/ency/article/000528.htm

    The information on this site should not be used as an alternative to professional care.
    If you have a particular problem, see a doctor, or ring the Parent Helpline on 1300
    364 100 (local call cost from anywhere in South Australia).

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