G6PD DEFICIENCY

G6PD DEFICIENCY

Overview and Facts

G6PD deficiency refers to a genetic disorder or in which the red blood cells break down when the body is exposed to certain drugs, foods, stress, or infections. It happens when the person’s body does not have enough levels of an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is vital in how the red blood cells will work properly. 

According to the G6PD Deficiency Organization, over 5% of the world’s population is affected by the disease. It has also been considered as the most prevailing hereditary enzyme deficiency in the world. And if a person is an African American,  Middle Eastern descent, particularly Kurdish or Sephardic Jewish, has a family history of the deficiency and a male, he or she can more likely develop the condition.

Types and Symptoms

SYMPTOMS

People with G6PD deficiency do not exhibit symptoms until their red blood cells are exposed to particular chemicals, food, infections, or to stress. But some of the patients do not experience signs at all. If there are, these symptoms may vary depending on the type or severity of the disease.

Hemolytic anemia is the most known problem related to G6PD deficiency. It occurs when the red blood cells have deteriorated faster than how the body can replace them. The symptoms of this problem are whites in the eyes, dark urine, shortness of breath, fever, fatigue, enlarged spleen, and a rapid heart rate. In children, they get skin discoloration such as jaundice. In terms of severity, skin ulcer is another type of condition that may occur among people who have G6PD deficiency.

The severity of the G6PD deficiency may also vary depending on the group. The problem is mild among the African-American group. It only attacks the older red blood cells. On the other hand, it often becomes more severe among the white group. Their young red blood cells get affected.

Diagnosis & Medications

DIAGNOSIS

Doctors diagnose a person with G6PD deficiency by looking at his or her medical history, diet plans, and medication. After reviewing the background, they proceed to observe the symptoms of the patient. The physicians may do repetitive laboratory tests such as blood and urine tests to make accurate findings.

 

TREATMENT

Doctors in treating the disease apply various medications. After figuring out the symptoms, they use the necessary treatments. These include getting rid of the agents that trigger an attack. An agent such as infection is treated appropriately. Medications used by the patient that deteriorates the red blood cells are being stopped. In cases of haemolytic anemia, exchange transfusion or blood transfusion is required. This is used to replenish the oxygen and the levels of the red blood cells.

People with G6PD deficiency must manage their conditions very well. It is important to know the treatment given by the physicians for them so that symptoms will no longer develop. It also involves monitoring of foods, medications, and stress. Knowing about the things needed to be avoided is the key to be able to live a healthy life while battling the condition.

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