Albinism in Puerto Rico

albinismo_fotos_624x351_adrianamonsalve

In “¿Por qué hay tantos albinos en Puerto Rico?” Alejandro Millán Valencia (BBC Mundo) asks why there is a high prevalence of albinism on the island. He also speaks about the particularities of albinism, as well as the stereotypes and stigma attached to albinos in Puerto Rico. The article includes photos by Colombian photographer Adriana Monsalve.  Here are a few excerpts:

In the north of Puerto Rico, one out of every 2,000 people is living with a time bomb in the chest. Over 30 years ago, they did not know and just collapsed on the floor and died suffocated on the burning roads leading to Aguadilla or Moca. Now they know the cause: the area has the higher prevalence of albinism in the world. And of a type that makes the vast majority of albinos suffer, at some point in their lives, from pulmonary fibrosis: the Hermansky-Pudlak syndrome (known as HPS called by its acronym in English). While in the rest of the world albinism affects one in every 17,000 people, in northern Puerto Rico it’s one of every 2,000.

[. . .] “Many of the people who suffer from HPS do not look like normal albinos, that is, the discoloration of the skin or hair is minimal, but they have a lot of vision problems,” Dr. Yeidyly Vergne, genetics specialist at the University of Ponce, told BBC Mundo. Therefore, [Carmen] Bosques [an HPS patient] points out, people think that albino children are not very smart. And it’s not that; it’s just that they cannot read. They cannot learn.

[. . .] For decades, albinism in Puerto Rico was treated as a single condition. If a person did not have white skin and golden hair, but died of a sudden collapsed lung, it was not related to albinism. “In the 60s they were able to establish up to eight different types of albinism, of which in Puerto Rico has HPS types 1 and 3 as the most prevalent,” Vergne said.

Thanks to the work of dissemination of various medical geneticists, who came to Puerto Rico in the mid-80s, they were able to establish the differences and ills associated to albinism. “That’s where we found out that what had happened to my father was due to the Hermansky-Pudlak syndrome,” said Bosques. “This disease consists of a process in which tissue begins to scar. Suddenly, the lungs cannot expand to take in oxygen and the person starts to asphyxiate.”

[. . .] But, why does this type of albinism occur in Puerto Rico so regularly, unlike other parts of the world?  Furthermore, it is a mystery how it developed here. Some studies situate the origin around the times of Spanish colonization over 400 years ago.

The truth is that the conditions of confinement and isolation on the island has been key to the “creation” of new types of HPS like 1 and 3. “This is known as the ‘founder effect’ due to confinement of the first inhabitants of the island; procreation develops in a very restricted number of people, which made the albinism gene mutate into another type, “Vergne said.

And this is where the relationship of the disease with fatal pulmonary fibrosis became evident. “Although there is already a drug approved for the treatment, the fact is that for many people the only option is q transplant, which is not done in Puerto Rico. Many have to travel to the United States,” said Vergner.

According to Puerto Rican government figures, since 2010, 47 children were born with some form of albinism, but there is no official data on mortality rates related to this condition. [. . .]

[Many thanks to Jorge Duany for bringing this item to our attention.]

For full article (in Spanish), see http://www.bbc.com/mundo/noticias/2015/07/150709_albinismo_puerto_rico_sindrome_prevalencia_amv

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