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G6PD deficiency
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<blockquote data-quote="imhotep" data-source="post: 28960372" data-attributes="member: 562115"><p>Infant jaundice is quite common and generally disappears in three weeks. Only persistent cases need further investigations. Suspecting GP6D is totally different to properly diagnosing it. Usually by a FST (Fluorescent Spot Test.) - The Gold standard test is different.</p><p>If the blood sample is during, or just after, a haemolysis episode, the result could be falsely normal. The false-negative result could happen because most of the blood cells with greater G6PD deficiency (the older ones) have already been destroyed and the remaining blood cells are not, or not yet, G6PD-deficient. Then you have to repeat the test in three months.</p><p></p><p>Genetic diseases just do not go away. They can only be managed. There are a few Gene therapies on the horizon, but will take a long time. Some genetically inherited disorders, such as cystic fibrosis, alpha-1 antitrypsin deficiency, hemophilia, beta thalassemia, and sickle cell disease could be cured with these therapies. They also may be used to treat cancers or infections, including HIV. Currently approved gene therapies only cater for about three conditions. There are more than 6000 genetic disorders in humans. <img src="/styles/default/xenforo/smilies/default/sad.gif" class="smilie" loading="lazy" alt=":(" title="Sad :(" data-shortname=":(" /></p></blockquote><p></p>
[QUOTE="imhotep, post: 28960372, member: 562115"] Infant jaundice is quite common and generally disappears in three weeks. Only persistent cases need further investigations. Suspecting GP6D is totally different to properly diagnosing it. Usually by a FST (Fluorescent Spot Test.) - The Gold standard test is different. If the blood sample is during, or just after, a haemolysis episode, the result could be falsely normal. The false-negative result could happen because most of the blood cells with greater G6PD deficiency (the older ones) have already been destroyed and the remaining blood cells are not, or not yet, G6PD-deficient. Then you have to repeat the test in three months. Genetic diseases just do not go away. They can only be managed. There are a few Gene therapies on the horizon, but will take a long time. Some genetically inherited disorders, such as cystic fibrosis, alpha-1 antitrypsin deficiency, hemophilia, beta thalassemia, and sickle cell disease could be cured with these therapies. They also may be used to treat cancers or infections, including HIV. Currently approved gene therapies only cater for about three conditions. There are more than 6000 genetic disorders in humans. :( [/QUOTE]
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