Cross-sectional studyindependent cross-checkfull text checked★ key study I-LEG-102 in-depth review

G6PD deficiency in Egyptian newborns

Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt.

Overview

Elella SA et al.. Ann Saudi Med 2017 · PMID 28988250 · DOI 10.5144/0256-4947.2017.362

In 2,782 newborns from Menoufia, 4.3% were G6PD-deficient, including 6.2% of boys.

Does the study support the specific claim? Yes · Methodological quality: moderate

Original publication

Plain-language summary

Study explained simply
What did the researchers want to find out?

Measure G6PD deficiency in newborns.

How was the study done?

Enzyme test of dried blood spots.

How many people, animals or samples were studied?

2,782 newborns born in 2015.

What was actually found?

119 deficient (4.3%).

How large was the observed effect?

Boys 6.2%, girls 2.1%.

What do the results mean in everyday life?

Roughly one boy in 16 in this region carries the deficiency that makes fava beans dangerous.

What are the study's limitations?

One governorate; cut-off choices.

What does it say about Elawady's specific claim?

Confirms that favism risk is relevant in Egypt.

Do the results apply to Germany and Europe?

Low relevance for native Europeans.

What can explicitly not be concluded from this study?

It does not show national prevalence or how many affected children develop haemolysis.

Scientific in-depth review

1. Full reference

Authors
Elella SA et al.
Journal
Ann Saudi Med
Year
2017
Identifier
PMID 28988250 DOI 10.5144/0256-4947.2017.362 · PMC6074198
Verification
verified – PubMed efetch 2026-10-26 + Crossref works API
Retracted
no
Corrections
none
Extent checked
full text
Conflicts of interest and funding

No conflict of interest declared (full text); funding not stated.

2. Research question

What is the prevalence of G6PD deficiency among newborns in Menoufia governorate, Egypt?

3. Study design and population

Study design
Cross-sectional study – Cross-sectional newborn screening study (quantitative fluorometric G6PD assay on dried blood spots)
Population

Infants born in 2015, samples collected with the central laboratories of the Ministry of Health

Country

Egypt (Menoufia governorate)

Period

2015

Sample size

2,782 newborns (1,453 male, 1,329 female)

Inclusion and exclusion criteria

Randomly selected dried blood spot samples of infants born during 2015.

4. Methods and endpoints

Exposure / intervention

Not applicable

Comparator

Not applicable

Endpoints

G6PD enzyme activity; deficiency prevalence

Statistical methods

Descriptive proportions; Mann-Whitney test for sex difference

5. Actual results

Results

119/2,782 (4.3%) deficient; males 91/1,453 (6.2%), females 28/1,329 (2.1%); 17 (0.6%) intermediate; male:female ratio 3.2:1.

Absolute risks

4.3% overall; 6.2% of boys (recalculated Wilson 95% CI 5.1-7.6%).

Authors' conclusion

The prevalence emphasises the importance of neonatal screening, early detection, intervention and genetic counselling.

6. Strengths

  • Quantitative enzyme assay
  • Sample drawn from a routine Ministry of Health screening programme
  • Full text read

7. Weaknesses

  • Single governorate
  • Low kit cut-off may misclassify heterozygous females
  • Minor inconsistency in the female denominator (1,329 vs 1,339)

8. Risk of bias

Orienting tool
none applicable
Type of assessment
simplified assessment (abstract only)
Full formal assessment
no
Overall risk of bias
some concerns
Rationale

Prevalence study; selection procedure only briefly described; limitation stated: no direct sample collection from local centres.

9. Assessment of the statistical interpretation

Recalculated prevalence and Wilson CIs agree with the paper (stats/C-LEG-03_elella2017_prevalence.py).

10. Relevance to the specific claim

Directly supports the statement that G6PD deficiency is frequent in Egypt (C-LEG-03).

11. Independent contrary findings

I-LEG-104 found 1.0% in Egyptian men in Kuwait (older method, migrant sample).

12. Transferability to Germany and Europe

Not applicable to native Northern European populations; relevant for people of Egyptian origin.

13. Overall methodological judgement

Best available Egyptian newborn screening estimate found: about 6 in 100 boys deficient in one governorate.

Multidimensional assessment
Multidimensional assessment
Authenticity of the sourceverified
Methodological qualitymoderate
Risk of biassome concerns
Precision of resultshigh
Directnessdirect
Reproducibilitypartly replicated
Consistency with the overall evidenceconsistent
Regional transferabilityhigh
Adequacy of the interpretation (by the archive)not applicable

14. Open questions

Regional variation across Egypt; national survey lacking.

15. Linked fact checks