11 doctors weighed in:

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

11 doctors weighed in
Dr. Joshua Batt
Emergency Medicine
4 doctors agree

In brief: 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.

In brief: 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.
Dr. Joshua Batt
Dr. Joshua Batt
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1 comment
Dr. Joshua Batt
Apparently it is still being used, but sadly misses a large portion of those who are positive. Since the biopsy is invasive, it is generally not the first choice for diagnosis. (http://utar.academia.edu/CheongSk/Papers/266957/Semiquantitative_Screening_Test_for_G6PD_Deficiency_Detects_Severe_Deficiency_but_Misses_a_Substantial_Proportion_of_Partially-Dificient_Females)
Dr. Alan Greene
Pediatrics
3 doctors agree

In brief: 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.

In brief: 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.
Dr. Alan Greene
Dr. Alan Greene
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Dr. Richard Roberts
Clinical Genetics

In brief: 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.

In brief: 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.
Dr. Richard Roberts
Dr. Richard Roberts
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Dr. Jennie Law
Internal Medicine - Endocrinology

In brief: 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...

In brief: 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...
Dr. Jennie Law
Dr. Jennie Law
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