Coombs Disease

Apr 12, 2010

coombs disease

G6PD Deficiency

G6PD deficiency–also known as Glucose-6-phosphate dehydrogenase deficiency–is a type of hereditary Disease which causes the destruction of red blood cells. The person who suffers from this condition essentially has hemolytic anemia. Males are mainly susceptible to this disease, as it is passed down from females on the X chromosome, but females are affected every now and then. It is one of the most common enzyme deficiencies known to humans. It is the lack of the appropriate enzyme that causes the destruction of the red blood cells.

Infections, medications, and certain foods can exacerbate this condition in those who already have it. It can also cause it in people who weren’t born with it. Beans are especially prone to causing G6PD deficiency, as the compounds in beans, particularly fava beans, can interfere with red blood cell viability. In people who developed the condition through exposure and not genetics, it can frequently be cured. Even in those who were born with it, it can be successfully treated pretty easily.

The glucose-6-phosphate dehydrogenase enzyme is produced in the body to transform carbohydrates into energy. But if is not produced in an adequate manner, the amount of red blood cell starts to decrease and the person suffers from anemia. When this enzyme is deficient through genetics, it is mainly seen in African-American males and people from the Mediterranean region. These populations are at high risk for this condition and need to be tested for it if symptoms of anemia appear.

Symptoms of anemia include extreme tiredness, rapid heartbeat, jaundice, breathing difficulty, enlarged spleen, and paleness. However, many people show no symptoms unless they are exposed to certain pathogens, drugs (especially quinine drugs or antibiotics), or foods. If the deficiency is minor, then medication may not be required beyond a simple iron supplement. However, those who have severe deficiencies may need regular hospitalization in order to receive oxygen rich blood transfusions. Otherwise, they may be too tired to function.

In most of the cases of G6PD deficiency, the condition goes undetected until the individual develops severe symptoms. In the initial period after Diagnosis, the doctor will prescribe certain tests like a complete blood count, the Coombs test, tests for liver enzymes, lactate dehydrogenase and haptoglobin tests, and more. Once a diagnosis is made, then the doctor will know the degree of the deficiency and will be able to prescribe a proper program of treatment to get the best results for the patient.

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