Albinism gene is present in every 1 in 70 people worldwide, and the disease can affect people of any age, colour, or ethnic background. Albinism rob your skin, hair or eyes of their natural colour. People with albinism have little or no production of melanin, the pigment responsible for our skin and hair colour. However, very few people know about the real cause of this disorder. So, on International Albinism Awareness Day, which is celebrated every year on 13th June, let us understand the culprits behind albinism.
What Causes Albinism?
When an individual is born with a defect in one of the genes that produce melanin, they may get albinism. The faulty gene inhibits the production of melanin production and transfers it from one generation to another. Kids born to parents with albinism or carry the gene, and they are at a higher risk of the condition. World Down Syndrome Day 2020: Physical Characteristics of Trisomy 21 and Other Symptoms Commonly Associated with This Genetic Disorder.
What are the Different Types of Albinism?
Oculocutaneous Albinism (OCA)
It is the most common type of the condition in which an individual inherits one copy of the mutated gene from each parent. The situation results in low pigmentation in the skin, hair, and eyes and causes vision problems. Pre-counselling, Diagnosis Can Prevent Genetic Diseases and Disorders in Future Generations, Say Doctors.
This albinism type occurs due to mutation in a gene in the X chromosome. The condition is more prevalent in men than in women. Here, the gene is responsible for the pigmentation in your eyes and causes vision problems.
Hermansky-Pudlak Syndrome (HPS)
One of the rare hereditary syndromes, this condition leads to pigmentation, visual impairment, and blood platelet dysfunction. It can also cause other disorders like colitis and lung fibrosis. The patient may also experience easy bruising and gums and nose bleeding.
This condition occurs due to the mutation in a gene. The symptoms of this disorder are similar to that of oculocutaneous albinism. A person with the chediak-higashi syndrome also has silvery hair and grey-coloured skin. Study Focuses on Mechanism to Explain Role of Gene Mutations in Kidney Disease
How to Diagnose Albinism?
To diagnose albinism, doctors perform a physical exam, an eye test, and compare the skin colour of the patient to the family members. Pigmentation and vision impairment confirms the diagnosis. However, genetic testing is the most reliable way to diagnose the condition.
Being a genetic condition, albinism doesn’t have any cure or preventive mechanism. Hence, people with the disease need skin and eye care In case of severe eye impairment, doctors may perform surgery on the ocular muscles. An annual skin assessment is also mandatory to check if they are at increased risk of developing lesions that can turn cancerous.
(The above story first appeared on LatestLY on Jun 13, 2020 07:00 AM IST. For more news and updates on politics, world, sports, entertainment and lifestyle, log on to our website latestly.com).