Is your child affected with G6PD DEFICIENCY?

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Is your child affected with G6PD DEFICIENCY?

Watch out these symptoms and factors leading to this deficiency. Usually deficiency of this enzyme doesn’t harm unless there is metabolic stress in body which can be either to oral medicines or food items like beans, tonic water etc. G6PD is defined as Glucose 6 Phosphate Dehydrogenase enzyme Deficiency which is important in red blood cell metabolism and helps to protect red blood cells from reactive oxygen species. It is a haemolytic anaemia (red blood cell enzymopathy) which has X-linked recessive genetic basis. It was discovered in 1950 accidently. Function of G6PD: • It is an important part of Pentose pathway • Protects against oxidative stress • Lack of G6PD causes haemolysis Variants classification by WHO: • Class I- severe deficiency (<10% activity) with chronic hemolytic anemia • Class II- severe deficiency (<10% activity) with intermittent haemolysis • Class III- mild deficiency (10-60% activity), haemolysis with stressors only • Class IV- non deficient variant • Class V- increased enzyme activity Find the best pediatrician in sector 57 gurgaon Factors causing stress: • Drugs – Sulfamethoxazole Primaquine Nalidixic acid Nitrofuran Chloroquine Methylene blue etc. • Fava beans, legumes, blueberry, soya food, tonic water, soya sauce etc. Symptoms: • Patient with this condition are generally asymptomatic until they are exposed to oxidative stress due to medicine, food or chemicals • Dark urine • Fatigue • Pallor • Tachycardia • Breathlessness • Jaundice • Splenomegaly Patient may experience an acute haemolytic crisis within hours of exposure to the oxidative stress. Crisis is self limiting even if the exposure continues. Diagnostic criteria: • Cbc- showing Heinz body and bite cells • G6PD screening • Methemoglobin reduction test Points to remember • Vaccination against Hepatits A and B is important in G6PD deficient patients. • No contraindication to routine vaccination • Neonatal screening for G6PD deficiency is important and comes under Metabolic screening for newborns • Folic acid and blood transfusion helps in haemolytic crisis situation • Avoid drugs and food causing oxidative stress