G
Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

G6PD

Glucose-6-Phosphate Dehydrogenase

CHR X

Overview

The G6PD gene encodes the enzyme glucose-6-phosphate dehydrogenase. It protects red blood cells from oxidative stress by providing NADPH.

📍 Chromosome

Xq28 (X chromosome)

🧬 Category

Metabolism

🔬 Inheritance

X-linked recessive

📊 Prevalence

400+ million worldwide

Associated Diseases

  • 🩸 Favism (G6PD Deficiency)

    Acute hemolysis after consumption of fava beans or certain medications.

  • 🩸 Chronic Hemolysis

    Rare variants lead to permanent anemia.

🧬 Relevant SNPs

rs1050828
X:154535202
Ref

C

/

Alt

T

Significance: G6PD A- variant. Common in Africa, leads to moderate enzyme deficiency.

rs5030868
X:154531389
Ref

C

/

Alt

T

Significance: G6PD Mediterranean. Severe form of deficiency, common in the Mediterranean region.

⚕️ Clinical Management

Avoidance of triggers (fava beans, primaquine, nitrofurantoin). Emergency medical ID card recommended.

📚 Data Sources

  • Source: OMIM: #305900
  • Source: dbSNP: rs1050828, rs5030868
  • Source: WHO G6PD Guidelines

Biological Function

G6PD protects red blood cells from oxidative stress by producing NADPH. Deficiency makes erythrocytes susceptible to hemolysis.

Associated Conditions

G6PD Deficiency (Favism) Drug-induced Hemolytic Anemia Neonatal Jaundice Chronic Non-spherocytic Hemolytic Anemia
Molecular Analysis

Analyzed Markers

ID Unknown Pathogenic (Moderate)
Pos: chrX:154535202 | Alleles: -/-

Val68Met (G6PD A-) - Moderate deficiency (~10-60% activity). Common in Africa.

ID Unknown Pathogenic (Severe)
Pos: chrX:154531389 | Alleles: -/-

Ser188Phe (G6PD Mediterranean) - Severe deficiency (<10% activity). Common in the Mediterranean.

ID Unknown Pathogenic (Severe)
Pos: chrX:154532030 | Alleles: -/-

Arg459Leu (G6PD Canton) - Severe deficiency. Common in Southeast Asia.