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G6PD Deficiency Definition
G6PD Deficiency – an inherited genetic disorder in which the body lacks the enzyme glucose-6-phosphate dehydrogenase (G6PD). Erythrocytes (red BLOOD cells) normally produce G6PD, which aids in metabolizing carbohydrates and also helps to protect erythrocytes from oxidation (damage resulting from metabolic waste).
The absence of G6PD causes health problems when the body experiences unusual stress, such as illness, or with certain medications such as aspirin and sulfa antibiotics. These circumstances cause oxidants to accumulate in the blood. Without G6PD to neutralize these oxidants, they destroy erythrocytes, resulting in hemolytic ANEMIA.
Symptoms of G6PD deficiency
The symptoms of hemolytic anemia resulting from G6PD deficiency include
- dark URINE
- pale SKIN
- JAUNDICE (yellowish discoloration of the skin and sclera of the eyes)
- HEPATOMEGALY (enlarged LIVER) and SPLENOMEGALY (enlarged SPLEEN)
- tachycardia (rapid HEART RATE)
Symptoms and family history may cause the doctor to suspect G6PD deficiency. Blood tests will reveal the hemolytic anemia. Treatment generally consists of avoiding circumstances and substances that trigger oxidative stress. Many people are able to avoid symptoms entirely through such an approach. Because G6PD is an inherited condition, there are no methods for prevention. The inheritance pattern for G6PD is X-linked recessive; G6PD affects twice as many males as females and is more prominent in people of African American heritage and Mediterranean heritage.