One letter difference in one gene spells longevity of anemia, a worldwide pain

One-letter variation in a single gene, derived from both parents, reveals a life of anemia and pain for 20 million people, mostly of African ancestry, worldwide.

Sick cell disease (SCD) causes red blood cells to take the shape of a crescent and leak in capillaries, cutting oxygen to the lungs, brain, bones and other organs. Despite the single genetic origin of SCD, everyone’s disease experience and even life expectancy depend on where they live, and the social, physical, and environmental factors they encounter.

Now, a new review published by Wiley in the magazine Advanced genetics suggests that not only is it possible and necessary to study all of these effects to understand differences in the knowledge and treatment of this disease, but that this approach will provide understanding and health care for all diseases with a hereditary component.

This new research and perspective comes from a study of existing research on SCD combined with preliminary data collected by an international collaboration examining the relationships of sociodemographic, clinical, genetic factors. and environment to pain among adults with SCD from three African and African Diaspora countries – Cameroon, Jamaica, and the United States.

SCD is the first molecular disease and may be the first to receive approved molecular treatment from gene expression. In the meantime, we must continue to make efforts to develop new tools and methods to reduce and prevent problems in the millions of people around the world who suffer from SCD, and most are unlikely to have immediate access to high-tech treatments when available.

The needs of people with underachieving SCD are common, even in European and North American countries.

Major national and multinational studies are needed to better understand SCD globally and to promote the development, translation and implementation of locally appropriate interventions and policies.. “

Study authors