In Africa approximately 1 in 20 people carry the gene for albinism.Credit: Matteo Guedia / Alamy Stock Photo
A new app for people with albinism offers resources about the condition, from raising awareness about the importance of appropriate UV protection, building resilience and self-confidence in the face of discrimination.
Albinism, which affects the production of melanin is a rare condition worldwide, but more common in Africa where approximately 1 in 20 people carry the gene. The number of cases varies between countries. If both parents carry the defective gene, a child has a 25% chance of having albinism, needing treatment for visual impairment and extra protection from UV light to prevent skin cancer.
Malawi, Tanzania and Kenya have the highest rates of albinism worldwide, and people with the condition often face discrimination because of misunderstanding about its cause. In 2019, the Executive Council of the African Union adopted a continent-wide plan of action against human rights violations against people with albinism in Africa.
In support, a book called Albinism – just a gene was produced for school children and a new website set up, to highlight the genetic principles of pigmentation in people, including those with albinism. The book debunks the superstitions about albinism and puts forward rational scientific explanations for the condition. School children and young adults can learn the basic principles of inheritance, genes, and DNA thanks to the simple language and cartoon illustrations.
The book, freely available, will be translated to different African languages.
Albinism is caused by one of 22 currently known human albinism disease genes. Seven of these genes are listed in OMIM as oculocutaneous albinism (OCA), but very recently a novel gene, PMEL, has been identified and added to this list.
The new gene encodes a melanocyte-specific transmembrane glycoprotein, essential for the normal maturation of melanosomes and deposition of melanin therein. In Sub Saharan Africa, however, most mutations affect the OCA2 gene. Gene alterations in individuals with albinism are inherited from both parents and cause hypopigmentation of the skin, hair and eyes.
Further efforts in basic scientific research are needed to get a greater mechanistic understanding on albinism, considering its clinical and genetic subtypes with broad phenotypic heterogeneity.
