Case 67 – part 1 summary

So we have found our patient has g6pd deficiency precipitated by eating broad beans. With folic acid and supportive care he made a full recovery.

G6pd deficiency is an X linked disorder that results in a deficiency of the enzyme G6pd. It can be seen more commonly in patients of African, Mediterranean and Asian descent. Although this is an X linked condition that normally affects men, women can be affected in they are homozygous, some heteozygotes can also have low levels or haves degree of lyonisation

G6pd is an enzyme that catalyses the reaction of nadp to nadph and the oxidation of G6pd. Nadph maintains levels to glutathione which decreases substances which may cause oxidation. Therefor if this balance changed there would be an increase in substances which may cause oxidative damage of red cells leading to haemolysis.

There are over 300 genetic variations in G6pd deficiency, and some individuals may never know they are affected as they are apparently asymptomatic. G6pd deficiency can present in the neonatal period with prolonged jaundice. Other individuals who are severely affected can have episodes of brisk haemolysis which can be triggered by foods such as favs beans and legumes and medications. The precipitant for haemolysis must be identified and avoided and the patient treated supportively during these episodes. This may require transfusion and folic acid supplementation. In patients history they may have previous apparently unexplained episodes of jaundice.

A blood film may reveal ‘bite cells’, ghost cells, and Heinz bodies (denatured haemoglobin) may be seen when blood is prepared with a supravital stain.

It is important when the diagnosis is made to provide the patients/family with a list of medications and food which can precipitate episodes of haemolysis and advise them to avoid these. It is also important to give advice regarding presenting if future symptoms, and what to look out for. Screening of potentially affected family members should also be offered.

Is there anything you want to add? Any questions?

We have a further 2 paediatric based cases this week so keep a look out for our next one tomorrow!

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