Glucose-6-Phosphate Dehydrogenase (G6PD)

Deficiency

Introduction

GENETICS

INHERITANCE RACE

INHERITANCE PD dehydrogenase gene is carried 6G

on the X chromosome

Females produce the same amount of G6PD enzyme as males

There are variant alleles of the G6PD gene

18.5 Size of gene (in kilobases)

DNA 13 Number of exons

12 Number of introns

2269

Size (in nucleotides) mRNA

515 Number of amino acids

Protein 59,265

Molecular weight (in Daltons)

2 or 4 Subunits per molecule of active enzyme

The G6PD enzyme catalyzes an oxidation/reduction reaction

CLINICAL ASPECTS

Definition Causes

Complications

Diagnosis Treatment

Medications that expose RBCs to higher than normal amounts of

Oxidative stress

Aspirin

Sulfonamides

Quinine Chloroquine

Primaquine