G6PD: deficiency

The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute haemolytic anaemia; the latter can be triggered by infections, the ingestion of fava bean (favism), some drugs (e.g. anti-malarials) and some Chinese herbal medicines. In some cases, the neonatal jaundice is severe enough to cause death or permanent neurological damage. In a proportion of cases, these manifestations may be life-threatening but fortunately, apart from these episodes of haemolytic anaemia, most G6PD deficient individuals are usually asymptomatic. A very small proportion of G6PD individuals have chronic haemolytic anaemia which can be severe. Total loss of G6PD activity is fatal.

Most of the 127 different mutations, identified to-date, are classified from Class I to Class IV (WHO classification),according to the severity/type of clinical manifestations:-

Screening of newborns is carried out in some parts of the world to identify those at risk; parents are counselled to avoid the potential offending agents. This is one of the most important aspects of managing the disease since there is still no cure available.