Albinism is a human genetic disorder, causing discolouration of skin, eyes and hair. It is chronic in nature and can last for a year or can be life long. A person suffering from albinism has no or partial pigment in the skin, hair and eyes; because of which they have pale skin and white hair. They face many problems in their life because of how they look and how pale they are.
This condition affects 1 in 17,000 people globally.
What causes Albinism?
Albinism is an inherited condition. Usually, the cells that make melanin don’t work due to a faulty gene. The defective genes are passed down from both parents and cause albinism in the child.
Signs and symptoms
Most recognisable form sign of albinism is white or pinkish skin.
Skin colouring can range from white to brown depending on an individual. With exposure to the sun, some people develop freckles, moles (with or without pigmentation), lentigines, and tanning.
Their hair colour can also range from white to brown. People of African or Asian descent with albinism, may yellow, reddish or brown hair.
It also causes some severe effects on the eyes. Vision impairment is the key feature of all types of albinism. Rapid, involuntary back-and-forth movement of the eyes, the inability of both eyes to stay directed at the same point or to move in unison, sensitivity to light, nearsightedness or farsightedness are some of the effects.
Types of albinism
– Oculacutaneous Albinism (OCA): OCA affects skin hair and eyes of an individual. There are four subtypes of OCA:
OCA1 – This is usually because of the defect in the tyrosinase enzyme which controls the production of melanin.
OCA2 – OCA2 is not as severe as OCA1. It is due to defect caused by the OCA2 gene that results in reduce melanin production.
OCA3- This occurs due to the defect in TYRP1 genes. It usually affects dark skin people usually black South Africans.
OCA4- It is the defect in SLC45A2 protein which results in the minimal production of melanin. It is commonly found in East Asian descent.
– Ocular Albinism: It is the result of gene mutation on the X chromosome and occurs almost exclusively in males. An individual with OA has normal hair and skin but no colouring in the back of the eye (retina).
– Hermansku-Pudlak syndrome: It is a rare form of albinism that is due to the defect in one of eight genes. Its symptoms are similar to OCA and it is accompanied with lung, bowel and bleeding disorder.
– Chediak Higashi syndrome: It is another rare form of albinism that is caused by the defect in LYST gene. It has symptoms similar to OCA but it does not affect all areas of the skin. People with Chediak Higashi syndrome have the defect in the white blood cells which increase their risk of infection.
– Griscelli syndrome: It is an extremely rare genetic disorder which is caused by the defect in one of three genes. There are only 60 known cases worldwide of GS since 1978. It occurs with albinism but affects the whole body with immune problems and neurological problems. GS also usually results in death during the first decade of life.
There is no cure for albinism. Although, genetic counselling can help with advice, support and information about the condition.
Other precautions and treatments can be used to cure the symptoms. Prescribed eyeglasses to correct vision, sunglasses for UV rays, protective clothing sunscreen to protect the skin, are some. Surgery can also be done on the eye muscles to correct eye movement but it won’t improve vision. Annual eye check up or skin assessment is also important throughout, for a healthy life.
Living with albinism is not easy. A person with this condition has to face several stigmas, discrimination, abuse, dehumanisation and sometimes brutal killing for money rituals. There are many myths and misconceptions about this disorder. People with albinism are treated as outcasts and also forbidden from socialising with others.
But why? Why treat them like this just because of a disorder? People need to know it can happen to anyone and just because they are fairer than you or have white hair, they are not any less of a human.
Edited by Preetika Dubey