Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

 Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

Glucose-6-phosphate dehydrogenase deficiency is an X-linked genetic disorder. therefore mostly occurs in males. This condition affects RBCs, which carry oxygen from the lungs to other body tissues. In this disease, deficiency of an enzyme called glucose-6-phosphate dehydrogenase causes breakdown of premature RBCs. This condition of the destruction of RBCs is known as haemolysis. 

Causes 

The bacterial or viral infections or infections of certain drugs (such as some antibiotics and medications used to treat malaria) induce haemolytic anaemia very easily in individuals with G6PD deficiency. 

Deficiency of glucose-6-phosphate dehydrogenase may also cause mild to severe jaundice in new-borns. Generally, the signs and symptoms of G6PD deficiency are not observed and the individual remains unaware of such conditions.

 Deficiency of G6PD is a hereditary condition which is passed from one or both parents to their child, It is an X-linked disorder, i.e., the defective gene responsible for the deficiency of G6PD is present on the X chromosome (one of the two sex chromosomes). Women have two X chromosomes, thus mainly functions as a carrier of the disease. While men have only one X chromosome, therefore, haemolytic anaemia mostly occurs in men.

 Symptoms 

Haemolytic anaemia is the most common complication of G6PD deficiency, In haemolytic anaemia, the breakdown rate of RBCs is faster than their production rate, The signs and symptoms of this condition are paleness, jaundice (yellowing of skin and whites of the eyes), dark urine, fatigue, breathlessness, and tachycardia. 

Diagnosis 

Deficiency of G6PD can be diagnosed by a simple blood test to check G6PD Enzyme levels) While complete blood count, serum haemoglobin, and a reticulocyte count tests are some other diagnostic tests used to measure the number of RBCs in the body. Thus, the doctor can diagnose the presence of haemolytic anaemia.

Treatment 

Deficiency of G6PD can be treated by removing the factors responsible for haemolytic conditions. If such conditions are resulting due to any infection then the underlying infection should be treated accordingly. If haemolysis is drug- induced, then therapy must be discontinued. In such cases, most people can recover from the condition by own. 

However if haemolytic anaemia has progressed, a more strict treatment is required like oxygen therapy to remove oxygen deficient conditions and blood transfusion to maintain RBC levels.