What are common genetic disorders?

Here are some of the most common genetic disorders:

Single-Gene Disorders (Easy Explanation)

These disorders happen when only one gene is changed (mutated). Even one small change can cause a disease.

🔹 Cystic Fibrosis

• What it does: Affects the lungs and stomach.
• Main problem: Makes thick, sticky mucus.
• Result: Trouble breathing and digesting food.

• What it does: Changes the shape of red blood cells.
• Main problem: Cells become hard and curved.
• Result: Pain, tiredness (anemia), and more infections.

• What it does: Damages the brain and nerves.
• Main problem: The body can’t get rid of certain fats.
• Note: Common in Ashkenazi Jewish families.

🔹 Phenylketonuria (PKU)

• What it does: The body can’t break down a part of food called phenylalanine.
• Main problem: If not treated, it can cause brain damage and learning problems.
• Good news: Can be managed with a special diet.

• What it does: Affects how the body makes red blood cells (hemoglobin).
• Main problem: Not enough healthy red blood cells.
• Result: Tiredness and weakness (anemia).