- 1 What is albinism?
- 2 What is melanin?
- 3 Types
- 4 Causes
- 5 Groups of risk
- 6 Symptoms and characteristics
- 7 How is the diagnosis of albinism made?
- 8 Does albinism have a cure?
- 9 What is the treatment?
- 10 Medications for albinism
- 11 Living / Prognosis
- 12 Complications
- 13 How to prevent or albinism?
What is albinism?
Albinism is a condition caused by genetic failure, which drastically prevents or decreases melanin production. Because of its role in protecting against damage caused by sunlight, melanin deficiency can lead to vision and skin problems.
There are several types of albinism. The most common is oculocutaneous, which affects the eyes and skin, but variations that affect only the eyes can also occur.
There is still no cure for albinism , but the complications caused by the condition are easily treated and can help the patient lead a normal life. The condition affects 1 in 17,000 people around the world, being common in sub-Saharan African countries.
However, albinism does not only affect humans. Animals are also born with the condition and, as a rule, do not survive long in their natural environment, because, in addition to their weakness in the sunlight, they are also more easily identifiable by their prey and predators.
The only effective way of survival for albino animals is to live in captivity. Due to their beauty and rarity, they become an attraction in zoos around the world.
Even so, some people confuse albino animals with animals that only have a white color ( leucistic ones ). Often, animals that are white in color are sold as albinos when, in reality, they only have white skin.
Because it is a poorly understood condition, in some African countries, such as Tanzania and Burundi, there is a belief that albino people would have magical properties, which causes many of them to have their human rights violated and even murdered. For this reason, the United Nations has established 13 June as the International Albinism Awareness Day.
Because of all this mysticism involving the condition, albinos can suffer from problems such as social isolation and constraints, which can lead to psychological problems.
Melanin is a complex polymer derived from tyrosine. It is responsible for the pigmentation of the skin, hair and eyes, being found in different parts of the human body.
There are different types of melanin, such as eumelanin, which is found in hair, skin and dark areas around the nipples (areolas), phaeomelanin, in hair and skin, and neuromelanin, found in different parts of the brain.
When eumelanin is low, the hair becomes blond. Pheomelanin is responsible for providing the colors pink and red in the body. It is found mainly in individuals with red hair. Neuromelanin, in turn, when low in the body, can lead to several neurological problems.
Despite being the most important, melanin is not the only substance responsible for providing skin pigmentation. Yellow exogenous pigments, such as carotenoids, also contribute to skin color.
Albinism is capable of affecting the body in several ways. It can be harmful to the whole body, as it can affect only one region, such as the eyes. Understand:
Oculocutâneo albinism (OCA)
Oculocutaneous Albinism can be differentiated into 5 subtypes:
There are 2 types of Oculocutaneous Albinism 1, but, in general, its carriers have fair skin, light hair and blue eyes at birth. This can change over the years, when some people, especially during childhood and adolescence, develop some amount of melanin, which can make the skin and hair color darker.
However, there are still differences between OCA1a and OCA1b. Check out:
- OCA1a: People with OCA1a have a total absence of melanin, with very pale skin, white hair and light eyes;
- OCA1b: People with OCA1b produce a small amount of melanin. They have pale skin, hair and light eyes. The coloring may increase over the years.
Oculocutaneous Albinism 2 is the result of a genetic failure in protein P, which helps tyrosine to produce melanin. People with OCA2 produce a minimal amount of melanin and their hair varies in color from light blond to brown.
OCA3 is characterized by a genetic dysfunction in the TYRP 1 protein, which also assists tyrosine in its functions. People with this variation have a greater amount of melanin in the body.
OCA4 is caused by a defect in the SLC45A2 protein, which helps tyrosine to perform its functions. People with this variation in the condition produce a minimal amount of melanin and have characteristics similar to people with OCA2.
OCA5-7 was diagnosed in humans in 2012 and 2013. Its physical symptoms have not yet been fully discovered, as there are not many verified cases and the condition is considered unusual.
Ocular albinism (OA)
In ocular albinism, normally only the eyes are affected by the condition. Its consequences involve serious vision problems, while the color of the skin and hair remains similar to that of family members.
Síndrome de Hermansky-Pudlak
Hermansky-Pudlak syndrome is a rare type of albinism caused by a mutation in at least 8 different types of gene.
It is much more common in Puerto Rico than in other countries, and its carriers have symptoms similar to that of oculocutaneous albinism. However, they can more easily develop lung, digestive and even blood diseases.
Síndrome de Chediak-Higashi
Chediak-Higashi syndrome is a very rare form of albinism and occurs because of a mutation in the LYST gene.
Its symptoms are similar to those of oculocutaneous albinism, and its carriers usually have brown, blond or silver hair, and milky or gray skin.
People with this type of albinism have defective blood cells, which increases their chances of getting infections.
Griscelli’s syndrome is extremely rare. Since 1978 to date, only 60 cases have been diagnosed and confirmed. The syndrome occurs with albinism, but does not necessarily affect the entire body.
Low immunity and neurological problems can occur. Patients with Griscelli Syndrome typically die during the first decade of life.
The ocular albinism linked to the X chromosome occurs, in the great majority, in men, because it is caused by a genetic mutation in this chromosome.
It works as follows: for the baby to be born a man, it is necessary that the expressed genes be XY, while, to be born a woman, XX is necessary.
When it comes to a girl, both the father and the mother must transmit the defective gene to the baby, as it is found on a portion of the X chromosome that does not exist on the Y chromosome.
With boys, it’s the other way around. In this case, it is enough for the mother to transmit the defective gene, which makes men twice as likely to be born with the condition, as the boy only has one X chromosome.
People with ocular albinism have vision problems, but the skin, hair and eye color usually do not change and remain similar to that of other family members who do not have the condition.
Albinism is caused by flaws in several types of genes that produce substances related to the production of melanin, causing a significant reduction or total absence of production of this substance by the body.
In most cases, it is related to the low production or lack of production of a protein called tyrosine, responsible for the synthesis of melanin within melanocytes.
In some cases, albinism only occurs when the person receives 2 mutated genes (one from each parent), causing the condition to be characterized as recessive.
The chances of getting albinism depend on the type of the condition. In most cases, for albinism to manifest, it is necessary that both the child’s father and mother have a defective gene and pass it on to the child.
If the child receives only one defective gene, the condition is not manifested and he becomes a carrier. If both parents carry the defective gene, but are not albinos, the chances of the child being born with albinism are approximately ¼.
However, there is ocular albinism caused by the X chromosome, in which, in most cases, only one defective gene is needed. It is much more common in men than in women, as it is linked to the X chromosome. In these cases, if the baby is a boy, only one defective gene is required for the condition to manifest.
The symptoms of albinism are usually, but not always, evidenced by the color of the skin, hair and eyes. However, all people with albinism have or are going to have vision problems. Understand:
The most classic and easiest way to diagnose albinism is by the color of your skin. Both hair and skin pigmentation are lighter and often white or pink. However, the color can vary from white to brown and can be quite similar to that of close relatives who do not have the condition.
For some people with albinism, their skin color never changes. For others, melanin production may start or increase during childhood and adolescence, resulting in small changes in skin pigmentation.
When overexposed to the sun, people with albinism can develop:
- Spots and warts, with or without pigmentation – spots without pigmentation (usually pink);
- Lentigines (many freckles in one place);
- Inability to tan, leading to burns of varying degrees of severity.
Hair color can vary from white to light brown. People of African or Asian descent who have albinism have yellow, red or brown hair.
The color may also vary and darken over the years.
The eyes of people with albinism have a color that can vary from light blue to brown and can change depending on age.
The lack of pigment in the colored part of the eyes (iris) makes the region, in a way, translucent. This means that the iris cannot completely block the light from entering the eyes.
Because of this, when the eyes are lighter, they can appear more reddish when exposed to certain types of light, because the transparency of the iris and retina leaves the blood vessels exposed, which causes this false impression.
Because of the lack of pigment in the eyes, albinism causes several vision problems, since the eye cavity is exposed to solar radiation. The visual symptoms of the condition are:
- Nystagmus (rapid and involuntary movement of the eyes);
- Strabismus (inability to focus both eyes on the same point);
- Myopia or farsightedness;
- Photophobia (hypersensitivity to light);
- Astigmatism (abnormal curvature of the eye surface, causing blurred vision).
Since other conditions can also cause changes in pigmentation, the diagnosis of albinism is not as easy and evident as it seems. To obtain a complete diagnosis, doctors usually order a battery of tests, which involve:
- Physical exam;
- Observation of changes in pigmentation;
- Examination of the eyes;
- Comparison of the patient’s skin with that of other family members.
Another test that can be done is the electrodiagnostic test, in which electrodes are attached to the scalp to test the connections of the eyes with the parts of the brain that control vision. It is practically painless and diagnoses vision problems that may be related to albinism.
Even with all these tests, the most efficient way to detect albinism is through genetic testing. However, if a family history of albinism already exists, testing may not be necessary.
Unfortunately, albinism has no cure . Treatment seeks to relieve symptoms and depends on the severity of the condition. However, this does not prevent some measures from being taken to avoid complications.
Certain measures and care can improve the albino’s quality of life. Are they:
- Wear hats or accessories that protect your head from the sun’s rays;
- Wear clothing that protects the skin well, such as long-sleeved shirts and pants;
- Wear sunglasses to protect your eyes from UVA and UVB radiation, avoiding sensitivity to light;
- Apply sunscreen SPF 30 or greater before leaving the house and exposing yourself to the sun or other sources of UVA and UVB radiation.
Babies with this genetic problem should be closely monitored from birth. Follow-up should extend throughout life, as your health status must be regularly evaluated by dermatologists and ophthalmologists.
When exposed to the sun, the albino hardly gets a tan, being only subject to sunburn. Therefore, whenever possible, exposure to the sun should be avoided, to avoid possible problems such as skin cancer .
Despite this, the other complications caused by albinism can (and should) be treated. Check out:
Some albino people are born with some degree of strabismus, which makes it difficult for them to focus both eyes on a physical point. This problem can be easily solved with the use of special glasses or with surgical intervention.
Because they are very exposed to the sun, the eyes and the retina are compromised and this can lead to the development of astigmatism . This condition is also easily treated through the use of prescription glasses.
Nystagmus, or rapid eye movement, can be corrected through the use of medications, which help to reduce symptoms, or by correcting surgery on the eye muscles.
Sunburn and skin cancer
In addition to the use of clothing that protects the skin from the sun and sunscreens with SPF equal to or greater than 30, people with albinism should be more attentive to the appearance of spots, warts and other skin problems.
If any skin problem becomes evident, the dermatologist should be consulted to prevent the development of skin cancer.
Vitamin D replacement
Vitamin D is very important for the body. Its main function is to fix calcium in the bones, but it still assists in the secretion of insulin by the pancreas, modulates the defense cells, controls the contractions of the heart muscles and, in addition to all these functions, it is still believed that it helps to prevent diseases such as breast cancer and Alzheimer’s disease.
However, to enjoy all the benefits of vitamin D, the sun is an important factor, as the substance is synthesized through the interaction of solar UVB radiation with the skin.
Because they cannot expose themselves to the sun due to the risks generated by the absence of melanin in the skin, people with albinism should replace vitamin D with vitamin supplements.
Because it is misunderstood and shrouded in mysticism, albinism causes people to experience social isolation and end up becoming more lonely. This problem must be addressed through inclusion and education policies on the subject. In many cases, some form of psychological counseling may be necessary.
To date, there are no drugs to effectively combat albinism.
Nitisinone, a drug used to treat tyrosinemia and increase hair pigmentation, has the potential to treat people with ocular albinism in the future. However, no relevant study points to the drug to treat albinism.
NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.
Living with the diagnosis of albinism is not easy. The condition is still surrounded by a series of prejudices and, in addition to physical problems, many people may have to end up dealing with social isolation, which can lead to psychological problems.
Take all necessary precautions
It should be noted that people with albinism should be more concerned with external factors, such as exposure to sunlight, than other people. Therefore, precautions such as the use of sunscreens and sunglasses are extremely necessary.
Improve educational processes
Because of eye problems, children with albinism suffer from some difficulties at school. Some measures can be taken to improve performance, such as:
- Sit in the front chair, next to the painting;
- Use computers with large screens;
- Increase the font in electronic devices;
- Use books and teaching materials with high contrast.
Seek psychological help
Social isolation can develop and cause psychological problems. Therefore, being accompanied by a psychologist is an interesting alternative for children and adults who suffer from this problem.
In addition to psychological assistance, parents of children with albinism can take some measures to improve the child’s life, such as:
Getting the child to talk about their feelings about the problem and the world makes them understand and deal with their problems better.
Prepare for embarrassing situations
Because it is little known, the condition brings with it some taboos.
People who are unaware of the condition can ask insensitive and even offensive questions. Therefore, it is good to prepare the child for this type of situation. People are not always mean to want.
It is very important for the child to create defense mechanisms and not to be affected by these embarrassing situations.
Find support groups
Online communities can be of great help to people with albinism. Meeting other people who are experiencing the same problem is very good, as it helps to better deal with the situation, stimulates self-acceptance and improves living conditions.
Because of the lack of melanin, the eyes of people with albinism are much more exposed to solar radiation, making eye diseases and vision problems more easily.
Vision problems related to albinism can be:
- Photophobia (aversion to light);
- Foveal hypoplasia (reduced visual acuity);
- Nystagmus (involuntary eye movement);
- Amblyopia (decreased visual acuity);
- Optic nerve hypoplasia (underdevelopment of the optic nerve).
The most severe complications of albinism are skin diseases. Because of the absence of melanin, the body cannot protect itself from the sun’s radiation and, therefore, the risk of serious burns and even skin cancer increases exponentially.
People with albinism should be aware of these factors and never stop using sunscreen and other ways to protect themselves from the sun.
People with albinism can suffer from isolation, as the condition is very poorly understood by society. They suffer from stigmatization, especially in communities where knowledge about the condition is still shallow, and race and paternity can be questioned due to the color of their skin.
The family and schools should strive to integrate people with albinism into group activities and encourage socialization. Contact with other people with albinism or who have albinos in your family is very good for treating this type of complication.
Because it is an uncommon condition, several cultures have created mysticisms involving albinism. In certain African countries, for example, sex with albinos is believed to cure HIV , resulting in several cases of rape and the spread of the AIDS virus .
In recent years, in Tanzania and Burundi, a flurry of murders linked to the practice of witchcraft and rituals against albinos has taken place.
In September 2009, for example, three men were convicted of killing a 14-year-old albino boy and practicing cannibalism with the child’s legs. Many albino children are kidnapped, killed and parts of their bodies are sold on the black market. The National Geographic Society of the United States estimates that the price of an entire body of an albino child amounts to US $ 75,000.00.
Because it is a genetic and hereditary condition, it is not possible to prevent albinism.
However, if you want to have a child and have the condition or have a defective gene, talk to a geneticist. It may indicate different techniques, such as assisted reproduction.
Assisted reproduction techniques ( in vitro fertilization ) are a great option for parents who want their child to be born without problems, whether they are related to albinism or any other genetic dysfunction.
This procedure is characterized by the removal of eggs and the subsequent fertilization of them with pre-selected sperm in the laboratory. Embryos are tested for the presence or absence of defective genes. The healthiest ones are selected and implanted in the womb, giving rise to a baby without congenital problems.
Albinism is an incurable condition. There is still a lot of misinformation about it, which can lead to social isolation for people who suffer from the problem. So contribute to raise awareness about albinism and share the text!
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