Carrier rate:
1 in 2 in Kurdish Jews and 1 in 4 in Iraqi Jews. 1 in 4 to 1 in 20 in tropical Africa, the Middle East, tropical and subtropical Asia, some areas of the Mediterranean and Papua New Guinea.

Disease frequency:
G6PD deficiency is thought to occur in approximately 60% to 70% of male Kurdish Jews, 30% of Sardinian males, 13% of Saudi males, 11% of Iranian males and 10 to 15% of African-American males.

Other ethnic groups in which it occurs:
400 million people worldwide from all races are affected.

Inheritance:
X-linked recessive

Age of onset of symptoms:
Symptoms can manifest as early as the time of birth.

Symptoms:
Symptoms do not appear until triggered by stressors. Jaundice can manifest at birth, and is a lifelong risk. Symptoms include dark urine, paleness, difficulty breathing, a weak, rapid pulse, fatigue and yellowing of the skin and eyes. The most severe episodes are called hemolytic events, an extreme result of which can be kidney failure. However, most individuals with G6PD deficiency never know they have the condition.

Average lifespan:
Lifespan is normal in individuals with the disorder, especially with management.

What causes the features of the disease:
When the body doesn’t produce glucose-6-phosphate dehydrogenase (G6PD), an enzyme found in red blood cells, the red blood cells break down faster than they can be replenished. This results in hemolytic anemia, which can vary in severity from lifelong anemia to rare bouts to no symptoms. The anemia can also be induced by certain oxidative drugs, infections, severe stress or ingestion of fava beans. (The most severe form of the disorder is called favism, after the legume.)

Treatment or management:
While the cause of the disorder cannot be treated, the symptoms are treatable through management of medicines and diet, and, if necessary, blood transfusions.

Carrier testing - number of mutations screened for and detection rate:
Genetic testing by full gene sequencing can detect approximately 99% of disease causing mutations. Other labs offer testing specifically for mutations found in the African population.

Other testing information:
Carrier testing is available to individuals with a family history of the disease. Testing is available to those with a previously affected child or to couples found to be at risk as carriers. To assist in making the diagnosis a physician knowledgeable of the symptoms can order a simple blood test to check G6PD enzyme activity in the blood.

Current research:


For more information:
G6PD Deficiency Favisim Association:
   www.g6pd.org
G6PD Deficiency Genetic Disorder, Favism and Hemolytic Anemia Website:
   www.g6pddeficiency.org