Hemochromatosis epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]

Prevalence of hemochromatosis is 6 times higher in white persons than in black persons.It is often described as a “Celtic mutation”–originating in a Celtic population in central Europe and spreading west and north by population movement.

Hemochromatosis is one of the most common inheritable genetic defects.^[1]

Incidence:

• In 2016, the incidence of C282Y is estimated to be 5400 cases per 100,000.
• In 2016, the incidence of H63D is estimated to be 13500 cases per 100,000.

Prevalence:

• In 2017, the prevalence of Hemochromatosis was estimated to be from 500 case in 100000 individuals.
• The carrier state is estimated to be approximately 10000 in 100000.

Race:

• Prevalence of hemochromatosis is 6 times higher in white persons than in black persons.

• C282Y homozygotes account for 82-90% of clinical diagnoses of hereditary hemochromatosis among persons of northern European descent
• Irish have highest prevalence of hemochromatosis.
• In 2005, estimated prevalence of C282Y homozygotes was higher in non-Hispanic whites than in Native Americans.^[2]
• Non-Hispanic whites 44000 cases in 100000.
• Native Americans 11000 cases in 100000.
• Hispanics 270 cases in 100000
• Blacks 140 cases in 100000
• Pacific Islanders cases 120 in 100000
• Asians less then 1 case in 100000

Countries:

• It is often described as a “Celtic mutation”–originating in a Celtic population in central Europe and spreading west and north by population movement.

• The European countries with the highest prevalence include Ireland, France, and Denmark.

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