Metabolic and Hematologic Genetic Diseases

Metabolic and Hematologic Genetic Diseases

G6PD Deficiency Inheritance and Testing: What the WHO Classification and Two Major Reviews of 400 Million Cases Actually Show

G6PD deficiency is the most common human enzyme defect, affecting an estimated 400 million people. This research-based guide explains X-linked inheritance, testing, drug safety, and US/Canada privacy law.
Metabolic and Hematologic Genetic Diseases

Your HLA-DQ2/DQ8 Celiac Result: What the Research Actually Says (It Is Not a Diagnosis)

A '23andMe HLA-DQ2/DQ8' flag sounds like a celiac diagnosis. Research shows the opposite: about 30-35% of people carry it, only ~3% of carriers ever develop celiac, and its real value is ruling the disease OUT.
Metabolic and Hematologic Genetic Diseases

Familial Hypercholesterolemia and Your LDLR Gene Result: What the Research Actually Says

An 'FH' flag or a stubbornly high LDL sounds like a verdict of early heart disease. Research shows the real danger is being missed — and that FH is one of the most treatable inherited risks.
Metabolic and Hematologic Genetic Diseases

C282Y Homozygous for Hemochromatosis: What Your Gene Report Really Means

A 'C282Y homozygous' result on a DNA test sounds alarming, but research shows most homozygotes never develop iron-overload disease. Here is what it means and what to do.