Albinism In Pakistan

Albinism in Pakistan is a common condition. However, it still remains an under the radar topic. There is a
lack of data as no surveys have ever been carried out to calculate the prevalence of this disease thus the
knowledge regarding albinism remains limited. Since, albinism is an autosomal recessive disorder, it is
more common in areas where family marriages are common, like Pakistan.1 Not only because of its
treatment but also because of its social and financial consequences, oculocutaneous albinism is
daunting. In such cases, the current pattern of consanguineous marriages, prevalent in this village,
places more focus on the role and significance of marriage counseling.2 Recently, researches have been
carried out to find out the common mutated alleles in Pakistani population but still the work done is
quite limited to reach a certain conclusion.3
Albinism and awareness
Awareness regarding albinism is very limited. Families of children with albinism have often felt that
there was no support group dedicated to albinism where they can discuss their problems and get
guidance from others with similar experience.4 We interviewed a father of 3-year old and he described
his experience of seeing his daughter with albinism for the first time, as very confusing as he had no idea
what this was. He said, it was only after his daughter that he actively started getting knowledge from
various sources to understand albinism. He also mentioned that explaining the condition to his relatives
was one of the hardest tasks. This shows that there is general lack of awareness regarding this condition.
Albinism and health
Affordability and quality of healthcare are two major barriers that people in Pakistan with albinism face.
Primary and secondary healthcare hospitals lack trained staff and tertiary hospitals are too costly for
majority of the population. Genetic counselling given to a parent at the time of the birth of their child is
also very rare and thus new parents have no idea on how to deal with it, further adding to their worries.
Risk of developing skin cancer is often not known to the families due to poor counselling and thus
children with albinism often stay exposed to UV rays for prolonged duration and develop skin sores that
could develop into skin cancer. Due to affordability issues, people with albinism don’t use sunscreens on

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