How do you get an albino child

Albinism - Symptoms and causes

Overview

The term albinism usually refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA). OCA is a group of disorders passed down in families where the body makes little or none of a substance called melanin. The type and amount of melanin in your body determines the color of your skin, hair and eyes. Melanin also plays a role in the development and function of the eyes, so people with albinism have vision problems.

Symptoms of albinism are usually seen in a person's skin, hair and eye color, but sometimes differences are slight. People with albinism are also sensitive to the effects of the sun, so they're at higher risk of getting skin cancer.

Although there's no cure for albinism, people with the disorder can take steps to protect their skin and eyes and get proper eye and skin care.

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Symptoms

Symptoms of albinism involve skin, hair and eye color, as well as vision.

Skin

The easiest form of albinism to see results in white hair and very light-colored skin compared with siblings or other blood relatives. But skin coloring, also called pigmentation, and hair color can range from white to brown. People of African descent who have albinism may have skin that is light brown or red brown and have freckles. For some people, skin color may be nearly the same as that of parents or siblings without albinism.

With exposure to the sun, some people may develop:

• Freckles.
• Moles, with or without color, which are sometimes pink.
• Large freckle-like spots, called solar lentigines (len-TIJ-ih-neez).
• Sunburn and no ability to tan.

For some people with albinism, skin coloring never changes. For others, melanin production may begin or increase during childhood and the teen years, resulting in slight changes in color.

Hair

Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that's yellow, red or brown. Hair color also may darken by early adulthood. Or hair may stain from contact with minerals in water and the environment, making hair appear darker with age.

Eye color

Eyelashes and eyebrows are often pale. Eye color can range from very light blue to brown and may change with age.

With albinism, the colored parts of the eyes, called the irises, usually don't have enough pigment. This allows light to shine through the irises and makes the eyes extremely sensitive to bright light. Because of this, very light-colored eyes may appear red in some lighting.

Vision

Vision problems are a key feature of all types of albinism. Eye problems may include:

• Rapid, back-and-forth movement of the eyes that can't be controlled, called nystagmus.
• An uncommon head position or head posture, such as tilting the head to try to reduce eye movements and see better.
• Eyes that can't look at the same direction at the same time or they appear to be crossed, a condition called strabismus.
• Problems seeing near objects or far objects, called farsightedness or nearsightedness.
• Extreme sensitivity to light, called photophobia.
• A difference in the curve of the front surface of the eye or the lens inside the eye, called astigmatism, which causes blurred vision.
• Differences in the development of the thin layer of tissue on the inside back wall of the eye, called the retina. This difference results in reduced vision.
• Nerve signals from the retina to the brain that don't follow the usual nerve pathways in the eye. This is called misrouting of the optic nerve.
• Poor depth perception, which means not being able to see things in three dimensions and judge how far away an object is.
• Legal blindness — vision less than 20/200 — or complete blindness.

When to see a doctor

At your child's birth, the health care provider may notice a lack of color in hair or skin that affects the eyelashes and eyebrows. The provider will likely order an eye exam and closely follow any changes in your child's skin color and vision.

If you observe signs of albinism in your baby, talk to your health care provider.

Contact your health care provider if your child with albinism experiences frequent nosebleeds, easy bruising or long-term infections. These symptoms may suggest rare but serious hereditary conditions that include albinism.

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Causes

Autosomal recessive inheritance pattern

Autosomal recessive inheritance pattern

To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. You get one from each parent. Their health is rarely affected because they have only one changed gene. Two carriers have a 25% chance of having an unaffected child with two unaffected genes (left). They have a 50% chance of having an unaffected child who also is a carrier (middle). They have a 25% chance of having an affected child with two changed genes (right).

Several genes give instructions for making one of several proteins involved in producing melanin. Melanin is made by cells called melanocytes that are found in your skin, hair and eyes.

Albinism is caused by a change in one of these genes. Different types of albinism can occur, based mainly on which gene change caused the disorder. The gene change may result in no melanin at all or a big decrease in the amount of melanin.

Types of albinism

Types of albinism are grouped based on how they're passed down in families and on the gene that is affected.

• Oculocutaneous albinism (OCA), the most common type, means a person gets two copies of a changed gene — one from each parent. This is called autosomal recessive inheritance. OCA is the result of a change in one of eight genes, labeled from OCA1 to OCA8. OCA causes decreased pigment in the skin, hair and eyes, as well as vision problems. The amount of pigment varies by type. The resulting color of skin, hair and eyes also varies by and within types.
• Ocular albinism is mainly limited to the eyes, causing vision problems. The most common form of ocular albinism is type 1. This type is passed down by a gene change on the X chromosome. X-linked ocular albinism can be passed on by a mother who carries one changed X gene to her son. This is called X-linked recessive inheritance. Ocular albinism usually occurs only in males. It's much less common than OCA.
• Albinism related to rare hereditary syndromes can occur. For example, Hermansky-Pudlak syndrome includes a form of OCA, as well as bleeding and bruising problems and lung and bowel diseases. Chediak-Higashi syndrome includes a form of OCA, as well as immune problems with recurrent infections, problems with the brain and nerves, bleeding disorders, and other serious issues.

Complications

Albinism can include skin and eye complications. It also can include social and emotional challenges.

Eye complications

Problems with vision can impact learning, employment and the ability to drive.

Skin complications

People with albinism have skin that is very sensitive to light and sun. Sunburn is one of the most serious complications of albinism. Sun exposure can cause sun damage, which may result in rough and thickened skin. Sunburn also can increase the risk of developing skin cancer.

Because of the lack of skin pigment, a type of skin cancer called melanoma may appear as pink or red growths or moles, rather than the usual black or brown color. This can make skin cancer harder to identify at an early stage. Without careful and regular skin exams, melanoma may not be diagnosed until it's advanced.

Social and emotional challenges

Some people with albinism may experience discrimination. The reactions of other people to those with albinism can have a negative impact on people with the condition.

People with albinism may experience bullying, teasing or unwanted questions about their appearance, eyewear or visual aid tools. They may look different from members of their own families or ethnic groups, so they may feel like outsiders or be treated like outsiders. These experiences may cause social isolation, poor self-esteem and stress.

Using the term "person with albinism" is preferred to avoid the negative impact of other terms.

Prevention

If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests.

By Mayo Clinic Staff

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Albinism (for Parents) - Nemours KidsHealth

Reviewed by: Amy W. Anzilotti, MD

en español Albinismo

What Is Albinism?

Albinism is an inherited condition that leads to someone having very light skin, hair, and eyes. It happens because they have less melanin than usual in their body. Melanin gives skin, hair, and eyes their color. Except for vision problems, most people with albinism are just as healthy as anyone else. 

What Are the Signs & Symptoms of Albinism?

Albinism (AL-beh-niz-im) that affects the skin, hair, and eyes is called oculocutaneous (ok-yuh-low-kyu-TAY-nee-iss) albinism. This leads to skin, hair, and eyes that are lighter than you would expect based on someone’s ethnic background or race. Symptoms vary based on how much melanin someone makes.

Signs and symptoms include:

• pale skin
• hair that is very light blonde, brown, or reddish
• eyes that are pink, light blue, green, gray, or light brown
• eyes that are sensitive to light
• a “lazy eye” (called strabismus)
• back and forth movement of the eyes (called nystagmus)
• vision problems

Albinism that only affects the eyes is called ocular albinism. Sometimes albinism can be part of other medical conditions.

What Causes Albinism?

Most of the time, someone has albinism because they inherited the gene for it from both their mother and father. Having just one of the genes (being a “carrier") does not give someone albinism. Most parents of children with albinism do not have any symptoms.

Sometimes, albinism is caused by a new gene change (called a mutation).

People with albinism or those who have family members with it can talk to a genetic counselor to understand how albinism can run in families.

How Is Albinism Diagnosed?

Doctors usually diagnose albinism when a child is noted to have skin, hair, or eyes that are much lighter than other family members. They’ll also look for changes in the eyes to help make the diagnosis.

How Is Albinism Treated?

Most people with albinism are otherwise healthy. Treatments mainly include taking care of the eyes and skin.

To care for the eyes, kids with albinism:

• need to see the ophthalmologist (eye doctor) often in the first 2 years of life and have regular follow-up care after that
• can wear special glasses or contact lenses to protect their eyes from the sun
• can get treatment for nystagmus and other eye problems

People with albinism have an increased risk of developing skin cancer. To protect the skin, they can:

• Wear broad-spectrum sunscreen with at least SPF 30 when going outside and reapply every 2 hours.
• Try to stay in the shade as much as possible.
• Cover up with clothing with SPF protection.
• Wear a hat.
• Check their skin for changes or suspicious marks.
• See their dermatologist (skin doctor) every 6–12 months for a skin check.
• Avoid tanning beds.
• Avoid medicines that make them more sensitive to the sun.

How Can Parents Help?

If your child has albinism:

• Take your child to all medical visits recommended by the care team.
• Help your child get involved in activities, sports, and hobbies that they enjoy.
• Talk about albinism. Teach your child that looking different is OK and that albinism is just one part of their life. If your child has trouble managing their feelings, talking to a counselor can help.
• Learn about albinism together. The care team is a great resource. You also can find information and support online at:
  National Organization for Albinism and Hypopigmentation

Reviewed by: Amy W. Anzilotti, MD

Date reviewed: January 2021

Why is it dangerous to be born an albino?

UDC: 572.522

Frolova Elena Vladimirovna transfusiologist, head of the blood transfusion department of the Kremenskaya Central District Hospital, [email protected]

Key words: albinism, melanin, photophobia, tyrosinase, shamanism

People who are at least somewhat different from others are often called "black sheep". But there is such a category of inhabitants of the Earth who differ from others not in essence, but literally in skin color. They have white hair, milky-white skin, and very light eyes, which may even appear red due to blood vessels showing through the unprotected iris. The reason for the development of this pathology is the complete absence of melanin pigment, which is responsible for the coloring of hair, eyebrows, eyelashes, iris and skin. The higher the concentration of melanin in the body, the darker the person will look. This pigment performs a protective function, preventing the harmful effects of sunlight. In this regard, albinos are completely unprotected and, as a rule, are highly susceptible to developing skin cancer. Another commonly affected organ is the eyes. Due to the fact that the iris does not contain pigment, it easily passes the sun's rays, which have a damaging effect on the retina. That is why albinos are characterized by the development of strabismus, astigmatism, and refractive errors. If people with albinism do not use special glasses to protect themselves from the sun, they may even face complete blindness. nine0003

Literature:

1. Andrievsky AA Albinism - myths and stereotypes // Clinical Pharmacy. - No. 1. - 2012. - S. 114-117.

2. Kalachev II, Mozherenkov IP Albinism in the practice of an ophthalmologist // Bulletin of ophthalmology. - 1989. - No. 2. - S. 71–74.

3. Slobodyan E. Who are albinos and in what countries are they in danger? // Arguments and Facts. - 2014. - № 3.

Humanity has known about this pathology for a long time, since the times of Ancient Greece and Rome. Spanish navigators met albinos among the Indians, and in the court of Emperor Montezuma they were sacrificed to the gods during solar eclipses. The development of pathology is based on a defect or complete absence of the tyrosinase enzyme, which is involved in the synthesis of melanin. The disease is hereditary, inherited in an autosomal recessive manner, and the likelihood that two albino parents will have a white-skinned child is very high. In Panama, on the coast of one of the bays, a whole tribe of albinos was found, formed as a result of related marriages. Due to the fact that the representatives of this tribe do not tolerate exposure to sunlight and suffer from photophobia, they are forced to lead a nocturnal lifestyle. This tribe is called "Children of the Moon". The centers of albinism were found in due time both in Northern Ireland, and in India. In fact, the albinism gene is not so rare, and every 70th inhabitant of the Earth is its carrier. That's just in order for it to appear in the offspring, the carrier of the albinism gene needs to meet his own kind [1] . nine0003

What is the suffering of albinos? Skin completely devoid of melanin becomes extremely sensitive to sunlight. That is why the incidence of skin cancer is observed among albinos many times more than among ordinary people. Most often, skin cancer affects the face and other exposed parts of the body. According to scientific research, among those with a similar defect over the age of 20, every fourth patient suffers from skin cancer, and over the age of 30, already every third patient. This terrible statistics also indicates that only 2% of albinos overcome the age limit of 40 years. True, these data are given about the inhabitants of the African continent. nine0003

In addition to damage to the skin, another target organ is the eyes. Albino patients suffer from the so-called "day blindness" - a sharp drop in visual acuity in bright daylight. This is due to the fact that the sun's rays, penetrating through the cornea not protected by pigment, contribute to the breakdown of the visual pigment rhodopsin. In addition to increased photophobia, albinos often have strabismus and refractive error, various manifestations of astigmatism. But at dusk, visual acuity, on the contrary, increases. Because of this feature, albino children are often considered mentally retarded, but in fact they simply cannot correctly perceive the visual information presented in the daytime [2]. nine0003

However, if in the civilized world albinos are threatened only by these diseases, then in African countries every white-born child has to literally fight for the right to live on this planet. When an albino child is born in a family, it is believed that this family deserved a curse from above. It is not surprising that they seek to get rid of such an infant immediately after its birth. According to statistics, more than 90% of albino children grew up in single-parent families, with single mothers, because their fathers abandon them immediately after the first meeting, suspecting their wife of cheating on a white man. More progressive-minded representatives of the African people, in order to save the child's life, send him to closed children's institutions, where he lives and develops in a society of his own kind. An interesting fact is that among representatives of the Negroid race, albinos are found about 4 times more often than among Caucasians. So, if among white people albinos are born with a frequency of 1:20,000, then among blacks this figure is 1:5000. And if among Caucasians it is difficult to distinguish an albino from an ordinary blond, then in Africa such an unusual phenomenon immediately catches the eye [3]. nine0003

If a person is so different from others, then the attitude towards him will be special. At different times, albinos were treated differently, but in most cases they were afraid, considered them a fiend, and tried with all their might to get rid of them by burning them at the stake or burying them alive in the ground. In Africa, for example, in Kenya and Tanzania, this attitude remains to this day. The life of albinos in these states is in mortal danger. It is believed that the limbs of albinos have magical properties, they are supposedly able to cure various diseases or attract wealth. Such stereotypes are preached by local shamans. In the news of the last decade, there are still reports of African albinos being hunted for body parts used in ritual magic. The bodies of unfortunate albinos are most often found decapitated, without one or more limbs. Sometimes even without internal organs. nine0003

In 2009, the first trial of the killers of an albino teenager took place, and those convicted were sentenced to death by hanging. Four inhumans killed a 14-year-old African boy with white skin and hair, cut off his head and dismembered his body. The most terrible thing in this story is that none of the four murderers pleaded guilty and appealed to higher authorities. But the court upheld the verdict. nine0003

Modern bloody hunters invent more sophisticated methods of hunting. Now they began to simply deprive their victims of limbs, while leaving them alive. The last 5 years have been sad for 90 albinos, who were deprived of arms and legs by ruthless fellow tribesmen.

Governments of a number of countries, in an attempt to support albinos, provide them with humanitarian assistance and sponsor research work. They are taken from the cruel places in which the unfortunate were born, special limb prostheses are made, and they help in psychological rehabilitation. In countries with a hot climate, there is an active promotion of measures to prevent skin cancer. nine0003

Albinos are advised to use sunglasses, sunblock, wear long sleeves; children under 3 years of age are generally advised to completely exclude exposure to sunlight.

Society must be tolerant of unusual patients and learn to help them adapt, primarily social.

Frolova Elena Vladimirovna, Why is it dangerous to be born an albino?. Handbook of a General Practitioner. 2019;3.

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What is it like to be an albino?0003

Afisha Daily spoke to two young people with albinism - a complex genetic disorder that affects health and appearance - about vision problems, reactions from others and modeling careers.

Alina, 20 years old, Minsk

I have eye, skin and hair albinism. I don't sunbathe and, like all albinos, I can't see well. All albinos have different vision problems. I have this nystagmus - involuntary movement of the eyes. Visual acuity is very low, in everyday life it greatly interferes. Even albinos are often advised to wear bangs to cover the skin of the face and eyes. If you properly protect your eyes from the sun, the problem of photophobia disappears. But correcting the vision of an albino is almost impossible. nine0003

I started to realize that I was different in elementary school. My parents told me that people can be cruel. That I might have to deal with conflicts, that people might tease me. At the same time, they said that I am who I am. I must accept myself, and if a person wants to offend me, do not enter into disputes with him.

I studied at a special school for children with visual impairments. Of course, because of my appearance, I was often noticed. I have one trait: if a person did something to me, I let it go and don’t remember, so I can’t describe specific situations. It happened that they threw sharp words in my direction, were rude - most often they were children. I decided that I would try to raise my children differently. nine0003

Due to vision problems, there are restrictions in choosing a profession - for example, I could not become a surgeon. But I do what I like. She studied at the College of Arts as a conductor. Now I work as an accompanist and teach vocals to children, in my free time I write music. I like it, I would like to continue to study and develop in this direction.

I don't have any restrictions on activity. I love sports very much: I skate, rollerblade, swim, I love volleyball and table tennis. Well, a bicycle - where would it be without it. nine0003

I try myself as a model. It all started when a photographer girl approached me on the street and invited me to shoot. Then others began to invite on TFP terms. These are creative projects, not commerce. But in order to make a career, appearance alone is not enough, you need high growth, and I am below one hundred and seventy. My parameters are also not quite suitable.

I also have a YouTube channel about albinism and other topics. But videos about albinism are gaining the most views so far. I decided to start a video blog because I was asked a lot of questions about albinism on social networks. For many mothers of albino children, the recommendations of doctors are not enough, they want to learn about the experience of a living person. Questions from different people were repeated: what kind of vision do I have, what skin creams do I use, how do I live. That's why I decided to record video responses. Now I have fans, for them I record a video about my life. nine0003

I don't have albinos in my family - at least I don't know about it. If I want a child, his possible albinism will not be a problem. This is not a vice. Moreover, there is no absolute probability that the mutation will be inherited.

I have a dream to live outside of Belarus, but this has nothing to do with albinism. I don’t want to slander my country, but it’s somehow dull here. I like the food, the climate and the mentality of other countries more, like Italy.

Vlad, 21 years old, Ivanovo

Neither my parents nor my grandparents had albinism. After my birth, my mom and dad turned to the genetic center - I'm not the first child, I have two sisters and a brother. It turned out that both parents have this mutated gene, but of all the children, only I had albinism. But I never had philosophical questions: why me? Why did this happen to me?

I was born in Gelendzhik, then we moved to the Ivanovo region. Not because of my albinism, it's just that my father is in the military. The first couple of years I studied at a regular school, but it was difficult. I had to enter a boarding school for the visually impaired in Ivanovo. My parents lived in the region, so from the age of eight I saw them only on weekends. At first it was difficult, then I got used to it, friends appeared. There were also other albino children in the school, three or four people. The teaching staff was also good, I graduated without triples. nine0003

Poor eyesight is a problem for all albinos, some better, some worse. I am one of those who have it worse. I don't wear glasses or lenses. I tried, but they are of no use. Personally, I only get a slight difference in contrast. The people around do not understand this, they say that this cannot be. Many people think that glasses are a salvation from all troubles: “Why don’t you wear? And try!" There is nothing to try, all childhood they ran around eye hospitals. But I'm not upset: it's been with me since birth, I don't even know what it's like to see well. nine0003

Everyone told me to go to a massage therapist. You know, there is such a stereotype that a person with poor eyesight is dear to masseurs. But I reasoned sensibly: biology is not mine, and a massage therapist must know anatomy perfectly. I chose logistics. First I graduated from college, and now I am studying in absentia at the university as a freight forwarder.

Of course, there were difficulties with studies. Not everything is adapted for people with vision problems. For example, in college we had the subject "Engineering graphics" - for me it's a nightmare, I could not sit in the drawings all the time. After all, I understand the meaning, I can solve problems, and with the details of the drawing - difficulties due to vision. But in college we had a very good teacher in this subject. She sat with me after classes, helped me finish. nine0003

In general, most of the health problems of albinos are related to vision. There are many things I can't afford, like driving a car. But this is correct: you cannot create danger on the road.

The road to many sports for albinos is also closed. I was engaged in boxing, but I never got up for sparring. And the coach immediately told me that I can only box at an amateur level, for myself. There is no talk of weightlifting. You won’t be able to pull irons in a fitness club: it can have a bad effect on your eyesight. But there is no exemption to horizontal bars and track and field disciplines. I used to run in the mornings, but now I've given up. nine0003

It is better not to sit at the computer all the time. Sometimes, of course, I get stuck on the phone, like many at my age. But the vision does not fall. I have a disability, I have to go to the doctors often, so I follow this.

I often visit relatives at sea. In order not to burn out instantly, you need a cream, no matter what brand, but with a high protection factor, from 50. Recently, they promised to bring a “hundred” cream from Thailand - I didn’t know before that such exist. And in Ivanovo, I don’t remember at all when I last smeared myself. We don't have sun for nine months a year. nine0003

I would not say that because of the unusual appearance, girls are more likely to pay attention. But photographers sometimes come up and ask to take part in the shooting. But a modeling career is not for me. I was at several photo shoots, I won’t say that I didn’t like it, it was interesting. But I don’t want to do this as my main job, and my hobby too - it takes too much time.

I try not to pay attention to the curious. It happens that I’m going somewhere on the bus, a friend says: “Everyone is looking at you. ” Yes, let them watch. I try to just deal with it. There used to be tactless questions, especially in a company where there are strangers, they asked if I dye my hair, eyelashes. He answered: “Yes, I paint everything: I also dyed my hair, eyebrows and skin,” there was a desire to be ironic on this topic. Or red eyes. There is little pigment in the iris, the vessels are translucent, in certain light redness is very noticeable. I used to hear: “Yes, your eyes are red!” As if I don’t look in the mirror and this is news to me. But I try not to be offended - I understand that for other people this is all unusual. nine0003

I cannot call myself an open person. I like to communicate with old friends, but I am not drawn to new acquaintances. Although recently the girl was added to my friends. It turned out she had an albino child. She asked how I live, where I study, how others treat me. She was upset, especially because of her vision problems, but I calmed her down as best I could.

Now I have a girlfriend. Her relatives are not worried about my albinism - a normal, good family. Yes, and she is already an adult, she can decide for herself who to date. I thought about the fact that my child might have albinism, but I realized that this does not really bother me. nine0003

Albinism is a complex genetic pathology, which results in a combination of disorders of various parts of the visual analyzer, starting from a well-known refractive error, which is often represented by complex or mixed astigmatism. Deeper, there are violations of the formation of the macular area of ​​the retina, a violation of the optic chiasm in the optic chiasm, and a violation of the representation of the retina in the visual cortex. Thus, in general, the whole system does not function properly. In addition, again, it is known that the level of pigmentation in these patients is reduced, which means that there is permanent light damage to the retina. As a consequence of all these disorders, congenital or early acquired nystagmus develops, which also interferes with high visual acuity.

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