James Henry Brothers, a Nova Scotian, went from specialist to specialist for 15 years looking for the cause of his symptoms. In 2013, a cardiologist in Kentville took a biopsy of his heart and sent it to the Mayo Clinic in Minnesota. The result: hereditary transthyretin amyloidosis, known as hATTR, a rare disease that affects the nerves, the heart and the digestive tract.
Now research published in the Canadian Journal of Cardiology has traced the gene variant behind it through the Brothers family to the Black Loyalists who arrived in Nova Scotia in the 1700s, as CBC first reported. The research suggests other Black Loyalist descendants in Atlantic Canada may carry the same variant and remain undiagnosed.
The variant, called V142I (formerly V122I), is most common in people of West African descent. For African Nova Scotians, whose communities date to the Black Loyalists, that makes a heart disease a matter of family history as well as medicine.
What the numbers look like in the United States
Canada has no comparable count for Black Canadians. In the United States, a study by researchers at Brigham and Women’s Hospital and Duke University, drawing on four NIH-funded studies, found that 754 of 23,338 Black participants, just over 3%, carried V142I. Carriers lived two to two and a half years less on average than non-carriers, and faced higher risk of hospitalization for heart failure by age 63 and of death by age 72, STAT News reported in 2024. The researchers estimated that about 500,000 Black Americans over 50 carry the variant.
The variant is not exclusive to any group, and cardiologists have cautioned against treating ancestry as biology. What the Nova Scotia work adds is a documented family line, from one patient to a named historical community.
Amyloid Action, a non-profit that promotes education and early diagnosis of the disease, is holding a community event on Nov. 28 at the Black Cultural Centre for Nova Scotia in Cherry Brook.
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