What is Albinism?
Albinism is an inherited recessive genetic condition. It is a rare, non-contagious condition caused by a mutation in one of several genes responsible for the production of melanin.
This gene is passed down to the child from BOTH parents – father and mother. Both parents of a person with Albinism (PWA), whether they have Albinism or not, must carry the gene of Albinism before a child with Albinism is born.
Depending on the mutation, melanin production can either be slowed or stopped. Albinism occurs if both parents carry the recessive Albinism gene, in which case the probability of having an affected baby is 1 in 4 (25%).
This probability is the same in each pregnancy and bears no relation to other births. Globally 1 person in 18,000 has Albinism.
Oculocutaneous Albinism type II (OCA2) is the most common type in Sub-Saharan Africa, where the condition has a higher prevalence: 1 in 1 000 are affected in some parts of Zimbabwe.
TYPES OF ALBINISM
TYPES OF ALBINISM
Albinism is split into a number of subgroups depending on the specific genes that are affected. DNA tests can determine the precise type of albinism. Research on albinism genes is ongoing. However, the subgroups of Albinism include the following:
Oculocutaneous Albinism (OCA)
Albinism affecting the skin, hair and eyes. This is the most visible form of albinism. Using DNA research to date, as many as seven forms of Oculocutaneous Albinism are now recognized – OCA1, OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. Some are further divided into subtypes. In each category and subcategory of OCA, the degree of colour/melanin apparent in the individuals varies.
Ocular Albinism (OA)
Albinism only affecting the eyes and is less common. Most cases are recorded in males. Children with OA may have skin and hair colour that are normal but slightly lighter than those of other family members.
Researchers have also identified type of albinism that comes with additional characteristics. One of these is known as Hermansky-Pudlak Syndrome (HPS). In addition to albinism, HPS is associated with lung and bowel disease. HPS is a less form of albinism but should be suspected if a person with albinism but should be suspected if a person with albinism shows unusual bruising or bleeding.
SYMPTOMS OF ALBINISM
The primary symptoms of Albinism can be split into the following four categories:
The most obvious symptom of albinism is a lighter skin tone. However, skin tone does not always differ substantially. Levels of melanin may slowly increase in some individuals, slowly darkening their skin tone as they age.
As with skin, the hair can range in colour from white to brown. Those of African or Asian descent tend to have yellow, brown or reddish hair.
This can also change with age and varies from very light blue to brown. Low levels of melanin in the iris mean that the eye can appear slightly translucent and, in certain light, look red or pink as the light reflects off the retina at the back of the eye.
Vision is always affected by Albinism. People with Albinism have vision problems that are not correctable with eyeglasses, and many have low vision. They are considered “legally blind”. Changes to eye function can include rapid movement, cross-eyes, lazy eye, blurred vision, photo phobia and underdeveloped optic nerves. It is the abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain that cause vision problems. The presence of these eye problems defines the diagnosis of albinism. The degree of impairment varies with the different types of albinism. Although people with Albinism may be considered “legally blind” with a corrected visual acuity of 20/200 or worse, most learn to use their vision in a variety of ways and are able to perform innumerable activities such as reading, riding a bike or fishing. Some have sufficient vision to drive a car.
CHALLENGES OF ALBINISM
- Vision Problems, Treatment & Rehabilitation
People with albinism always have problems with vision that are not completely correctable with eyeglasses. Vision problems in albinism results from abnormal development of nerve connections between the eye and the brain due to their low or lack of melanin. The degree of vision impairment varies with the different types of albinism and most people with albinism generally have low vision. Most however, can use the vision they have for many tasks including reading. Most persons with albinism do not use Braille. A small number of people with albinism have sufficient vision to drive a car.
- Skin Problems and Treatment
People with many types of albinism need to take precautions to avoid damage to their skin caused by the sun. Damage to the skin can be avoided by regularly wearing sunscreen lotions, hats and sun-protective clothing which is clothing that covers skin from exposure to the sun.
- Social Challenges and How to Remove them
People with albinism are at risk of isolation because the condition is often misunderstood. Social stigmatization can occur, especially within communities were other family members have dark skin and appearance. Families and schools must make an effort to include children with albinism in group activities. Contact with other persons with albinism, or others who have persons with albinism in their families can be most helpful.
- Medical Challenges and How to Avoid them
In many countries, most people with Albinism live normal life spans and have the same types of general medical problems as the rest of the population. Those with additional conditions such as Hermansky-Pudlak Syndrome may have a shortened life span by lung disease and other specific challenges. In countries with sunny or hot tropical climates, PWA who do not use skin protection may develop life threatening skin cancers. PWA in such countries must use appropriate skin protection, such as sunscreen lotions rated 20PF or higher and proper clothing to enjoy outdoor activities and a normal life span.
MURDER AND MUTILATION
People with Albinism in Africa face the threat of physical violence from infancy: in communities where dangerous myths are widespread, babies are routinely slaughtered at birth; those who survive endure years of abuse. Some are even targeted for their body parts, sold for thousands of dollars and used in witchcraft charms thought to bring wealth and fortune. This growing trade has led to the murder of 206 persons with albinism across 28 African countries (and a total of 562 attacks and mutilations). Tanzania presents a particularly severe case, with 76 murdered and 76 more attacked since 2006. Many murders are believed to have gone unreported, and it is impossible to know how many babies have been killed at birth. Those involved in this trade often operate under a code of silence, making investigation and prosecution difficult. In Tanzania, the government has placed hundreds of children with albinism in special protectorate centres to guard their safety. Credit – SV.