Albino

The word albino is used to describe a person (or animal) with a condition called albinism. It is a rare condition, present from birth, which has no known cure. People with albinism have a partial or complete lack of pigment ‘melanin’ that normally gives colour to skin, hair and eyes. The amount of melanin the body produces determines skin, hair and eye colour. In people with albinism, there is either little or no production of melanin, which means they either have no pigment in their skin at all, or are of a lighter pigmentation for someone of their family.

Since melanin is also responsible for protecting us from ultraviolet light, people with albinism are very sensitive to the sun and are at a higher risk of developing skin cancer. Melanin is also responsible for the development of some optical nerves, and most people with albinism have problems with vision.

Causes of albinism

Our genes are responsible for providing our body with chemically coded instructions for its functioning. Several genes are responsible for the instructional codes for the production of proteins to make melanin. A mutation in one of these genes causes albinism.

Albinism is an autosomal recessive disease. This means that a person must inherit this mutated gene from both parents to develop albinism. In most types of albinism, inheriting only one mutated gene from one parent does not cause the condition.

Types of Albinism

Depending on the genetic mutation, albinism is divided in to many different forms. All of the
se forms involve the lack of melanin in varying degrees.

• The most common form of albinism is called ‘oculocutaneous albinism'. This form affects the eyes, skin and hair (oculo= eyes, cutaneous=skin). Oculocutaneous albinism has been divided into 4 types based which mutated gene has caused the disorder.
  

Type 1: is caused by a gene mutation on chromosome 11. Most people with this type of albinism have milky white skin, white hair and blue eyes at birth. This may or may not change over the years. In cases where melanin production does start in childhood, hair may become golden blonde or brown, skin may tan, and eyes may change colour and lose some of their translucence.
Type 2: is the most common form of the disorder worldwide and is caused by a gene mutation on chromosome 15. It is more common in Sub-Saharan Africans and African Americans. In people of African descent, skin is white at birth, hair is yellow and eyes are blue-grey or tan. The skin may develop freckles and moles with sun exposure. There are also cases where the skin is light brown, and hair may be ginger, brown or auburn. In Caucasians with this type of albinism, skin is white, hair blond and eyes are blue at birth. The eyes and hair may darken and skin usually develops freckles and moles.
Type 3: This is a rare form of albinism, identified in black South Africans. It is caused by a genetic mutation on chromosome 9. The skin is usually reddish brown, hair is ginger or reddish and eyes are hazel or brown.
Type 4: According to studies, this type of albinism is common among people of Japanese and Korean descent. It is also a rare form caused by a genetic mutation on chromosome 5 with symptoms similar to type 2.

• X-linked ocular albinism is another common form of this condition, and affects only the eyes, which lack colour. The skin and hair are normal or slightly lighter in this form of albinism. It is caused by a gene mutation on the X chromosome. This means for a woman to inherit this type of albinism she must inherit the gene mutation from both parents. For a man however, the single mutated gene on X chromosome is enough to cause the disorder (as there is no corresponding gene on Y chromosome)

Associated disorders

There are certain conditions that also result in albinism and so are closely associated with it. Briefly, they are:

• Hermansky-Pudlak Syndrome: is a rare disorder which is similar to oculocutaneous albinism, however but people with this syndrome also develop bowel and lung diseases and a bleeding disorder. It is caused by at least one of seven mutated genes.
• Chediak-Higashi Syndrome: is another rare disorder with symptoms similar to oculocutaneous albinism. People with Chediak-Higashi Syndrome have a white blood-cell defect that makes them susceptible to infections.

Signs and symptoms of albinism

The symptoms of albinism are apparent in appearance of the skin, hair and eye. However, this is not always the case, as the appearance varies depending on the amount of melanin present in the body and the type of albinism. Almost all people with condition experience vision problems. The signs of albinism are:

Appearance of the skin: The most recognisable form of albinism is where the appearance of the skin is milky white. The colour of the skin can vary from milky white to almost the same as the skin colour of parent and siblings without albinism. In some people, the skin pigmentation never changes. In others, the production of melanin may increase especially during childhood and adolescence.

With sun exposure also, the appearance of the skin may change. Some people develop freckles and large freckle like spots, the ability to tan and moles (with or without pigment).

Appearance of the hair: The colour of the hair in people with albinism varies from very white to brown. The colour of the hair may also change by early adulthood. African and Asian people with albinism may have hair that is yellowish, reddish or brown.

Appearance of the eyes: The eye colour, which may also change with age, may vary from light blue to brown in people with albinism.

People often think of albinos as having pink or red eyes. This is because the lack of pigment in the irises causes them to become translucent to some degree. This does not allow the irises to completely block light from entering the eye. Light therefore is reflected off the back of the eye and back out through the iris again. This along with the translucence gives the eye the appearance of being red. The effect is similar to the ‘red eye’ we see in flash photographs.

Vision problems: People with all types of albinism have problems with eye function and vision. Commonly these problems are:
(a) extreme near or farsightedness
(b) involuntary, rapid movement of the eyes from side to side called nystagmus
(c) Strabismus, which is the inability of both eyes to stay directed at one point or to move in unison
(d) Photosensitivity or sensitivity to light
(e) ‘Lazy eye’ or amblyopia
(f) Astigmatism

Did You Know?

• Albinism is a rare disorder that it is found in fewer than 5 people in 100,000 in Europe and the U.S.A
• In Southern Nigeria rates of albinism are much higher than other parts of the world – found in about 20 people in 100,000
• Albinism does not affect intellectual ability or potential
• People with albinism often face discrimination
• Albinism is not contagious and you cannot catch it from an albino person!
• In parts of Africa, albinos are discriminated against and are called ‘monkeys’ , ‘ghosts’ and ‘peeled potatoes’
• In Tanzania, many albinos are being killed so that their body parts, which supposedly have magical powers, can be traded.

Treatment of Albinism

There is no known cure for albinism. However, there are treatments and precautions that can help manage the condition. People with albinism are advised to protect their skin by using sunscreen and covering as much skin as possible when they are out in the sun. They are also advised to protect their eyes by using UV protection sunglasses. For vision and problems associated with eye function, glasses, contact lenses and surgery may be required.

Prevention

Genetic counselling, especially in the case there is a known and long family history of albinism, can help prevent further occurrences of the condition.

Discrimination faced by people with albinism

People with albinism often experience social difficulties. As children they may be stared and pointed at and even teased and bullied, mostly due to ignorance. Since most people with albinism look vastly different from their families their sense of isolation is heightened.

They are also the subject of sympathetic looks and are treated as if they have severe disability or are ‘dying of a horrible disease’ rather than a genetic condition that does not affect their minds.

The colour of skin has been a sensitive topic in all cultures throughout the ages. The issue is more heightened in people with albinism of African descent as they bear no resemblance to their race and their skin and hair resemble Caucasians. In many African societies, albino children were killed or abandoned at birth, or were denied breast milk and subjected to harsh conditions. They were even offered as ritual sacrifices. Albinos were thought of as cursed, a sign that punishment would befall the family. In Jamaica too, albinos are considered cursed and are therefore degraded.

Albino children were often regarded as illegitimate children, and their mothers suspected of infidelity with white men. Due to this discrimination, many albinos remain uneducated or drop out of school and end up in poverty.

There are also many myths and superstitions surrounding albinos that exist to this day, especially in Africa. In Zimbabwe, it is believed that having sex with a woman with albinism will cure a man of HIV. This caused a number of rapes in the area. In Chad, albinos are eliminated through secret practices by some ethnic groups as an albino birth is considered ‘false’, i.e, an albino is not a real person. They are also supposed to be associated with witchcraft and people avoid them in order to avoid bad spells.

In Tanzania, there has been growing media attention to albino killings. According to a myth, albino organs possess mystical powers. This is fuelling a demand for albino organs, particularly genitals, limbs, breasts, fingers and the tongue. To counter this problem, awareness days such as the National Albino Day have been created to dispel the myths and superstitions that surround this condition.

Albinism and popular media

The media has not been able to spread awareness about this condition. In fact albino portrayals in film have been mostly unkind. Popular films, including Cold Mountain and the Da Vinci Code have propagated the stereotype of the evil, merciless villain, thug or hit man. They have never been portrayed in leading roles. In fact they are most often portrayed as assassins and sharpshooters though most albinos have vision problems! They are also portrayed in horror films as scary or are given silly nick-names. This may affect the way society views this condition. For more information on living with albinism and support groups, please see National Organisation for Albinism and Hypopigmentation

Prognosis

Most people with albinism, especially in Europe and the United States can live normal life spans. People with albinism need to take care of their skin and eyes when facing sun exposure. They may experience social problems, but increasingly there are support groups, many of them online, which provide information, tips and guidance to family members and people with this condition.

References

• Albinism, types, causes and symptoms
• What is albinism?
• Albinism: definition, treatment and prognosis
• Albinism Myths
• Autism and Albinism: woes of our world
• Albinism: Rejection, stigmatisation and poverty
• Superstitious albino killings in Tanzania must stop
• Movies and television shows depicting albinism
• Hollywood’s unwritten rules for characters with albinism
• Albinism: Media and Hollywood
• Albinism Myths