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Five of the Worst and Most Common Genetic Mutations That Might Be Lurking in Your Patient’s Family Tree

The US Surgeon General’s office has declared Thanksgiving to be National Family Health History Day. This national awareness initiative is meant to encourage families to discuss any illnesses or health abnormalities that may run in their family trees.

In this installment of The Awareness Minute, Dr. Lynn O’Connor outlines five genetic mutations that are precursors to some of the most debilitating inheritable diseases. Genetic screening has become more affordable and more widely available than ever before, so being aware of these genetic aberrations in one’s family tree can prompt patients to seek advice or preventative care. This information might be especially useful when couples begin discussing their future children.

References (National Institutes of Health – Genetics Home Reference):

5. CFTR gene
4. HEXA gene
3. PAH gene
2. Hemoglobin, β gene
1. Huntingtin gene

Lynn O’Connor, MD, MPH, FACS, FASCRS
Colorectal Surgeon