A member asked:

Who should be screened for g6pd defciency (favism) and which exams are indicated?

10 doctors weighed in across 4 answers
Dr. Joshua Batt answered

Specializes in Emergency Medicine

DNA testing: Screening should be done if members of your family are known to have the deficiency as it is genetically transmitted. African, asian, mediterranean, or middle-eastern individuals are at greatest risk. It is commonly diagnosed at birth or in the first few months of life. Dna testing is now available, but liver biopsy remains the standard in diagnosing.

Answered 12/20/2012

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Fluorescent spot: G6pd affects ~400 million people worldwide. Suspect it whenever there's non-immune hemolytic anemia (where red blood cells burst, not from blood type mismatch problem) especially after infection, medication or dka, & especially in several ethnic groups. Several screening tests can detect decreased g6pd enzyme activity in red cells. The fluorescent spot test is one simple, effective screening.

Answered 10/1/2013

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Ethnic groups: Some ethnic groups have this deficiency more than other groups- african americans and middle eastern populations may carry it slightly more. Ppl who might need meds that require functional g6pd should be screened...

Answered 10/3/2016

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Dr. Richard Roberts answered

Specializes in Pediatrics

G6PD deficiency: It is an autosomal recessive disorder. Favism is the effect of Fava Beans on individuals affected with G6PD deficiency. Affected individuals have fragile red blood cell membranes which can rupture when exposed to a substance creating oxidative stress, including naphthalene moth balls, sulfa drugs, ASA and APAP. They may need a transfusion for very low hemoglobin. See G6PD Deficiency Association.

Answered 6/14/2015

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