Albinism
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Photo Credit: ThisIsAfrica
What is albinism?
Albinism is a set of genetic disorders that affect the skin, hair, or eyes. These body parts lack the usual coloration. Because the eyes are one of the parts affected by albinism, visual problems will typically be a part of it. The National Organization for Albinism and Hypopigmentation gave a report one time that at least 1 in every 18,000 to 20,000 people suffer from Albinism in the United States.
What are the types of albinism?
Albinism comes in different shades because different gene defects are involved.
Common types of albinism are:
Oculocutaneous albinism (OCA)
OCA affects the eyes, skin, and hair. Several subtypes of OCA exist:
OCA1
OCA1 is a result of a tyrosinase enzyme defect. It is further subdivided into two types:
- OCA1a. This OCA1 type lacks melanin. Melanin is the pigment that is responsible for the typical color that the skin, hair, and eyes have. When this pigment is lacking in the body the hair becomes white, the skin becomes pale and the eyes become light.
- OCA1b. In OCA1b, melanin is produced in little amount. Affected people have light-colored hair, skin, and eyes. It is very possible for the skin coloring to increase as such people advance in age.
OCA2
OCA2 isn’t as severe as OCA1. It’s caused by a defect in a gene called OCA2.
It is this gene that makes the little quantity of melanin that the affected people have. If you have OCA2, you were born with a light-colored skin. Your hair may be blond, yellow, or light brown. It is very common for Africans and Native Americans to have OCA2.
OCA3
OCA3 is as a result of a defective gene called TYRP1. The people that will be affected are people of a dark complexion especially South Africans that are blacks.
Their skin will become reddish-brown, their hair reddish, and their eyes brown hazel.
OCA4
The bad gene in OCA4 is the SLC45A2 protein.
This defect is what will cause little production of melanin. It is common in people of East Asian descent. OCA4 share the same symptoms with OCA2.
Ocular albinism
Ocular albinism is strictly a retinal problem in males only. Every other part – hair, eyes (except the retina) and the skin are fine. The retina lacks melanin and hence has no tint of color.
It is an outcome of a mutation of a gene on the X chromosome. The retina is situated behind the eyes.
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome is another uncommon type of albinism that share symptoms similar to OCA.
It is consequent upon a defective gene – one of eight genes. It is usually associated with bleeding, lung, and bowel.
Chediak-Higashi syndrome
Chediak-Higashi syndrome is a development from a bad gene termed LYST. Its symptoms are similar to that of OCA. It is not all skin areas that are affected.
People with Chidak-Higashi have hair that could be brown, silvery or blond. Their skin will be creamy or grayish. This syndrome comes with defective white blood cells which can raise the possibility of suffering from infections.
Griscelli syndrome
Griscelli syndrome is caused by one of three genes defect. People with Griscelli syndrome might not make it to their 10th birthday. Only 60 cases of this syndrome in the entire world have been reported since 1978. It coexists with albinism. It may or may not affect every part of the body. It is associated with causing neurological and immune problems.
What causes albinism?
Different genes in the body are saddled with the task of making melanin available in the body.
If any or all of these genes are mutated, little or no melanin will be available in the body to give the skin, eyes and hair their characteristic color.
A bad (mutated) gene can be passed down from an affected parent to a child. This means that if you are an albino or you have that bad gene that is yet to be expressed, you can pass it to your unborn child. So be careful not to pass it down to your child! That was for the laughs anyway. You can’t really help it if you are albino already or if you have the bad gene in your genetic makeup.
Who is at risk for albinism?
If your mother or father is an albino or even your grandparents, you might give birth to a child that is an albino. And if you have albinism, it means one of your parents or grandparents had the gene for albinism. So you got it from them!
What are the symptoms of albinism?
Albinism has the following typical symptoms:
- the absence of color in these three places – hair, eyes, and skin
- lighter than normal hair, eyes, and skin color
- skin patches that
lacks color
Common visual problems that go ‘handy’ with albinism include:
- photophobia – light sensitivity
- nystagmus – involuntary movements of the eyes that occur rapidly
- strabismus – crossed eyes
- impaired vision and sometimes blindness
- astigmatism
How is albinism diagnosed?
Basically by genetic testing! This is the most accurate approach to diagnosing albinism. The genes associated with it are assessed.
Other approaches for the diagnosis of albinism (although they could be less precise) include the use of an electroretinogram test or mere assessments of the symptoms.
Electroretinogram assesses the response of the retina to light. This can reveal any anomaly.
What are the treatments for albinism?
Albinism is without a cure for now. Perhaps you can provide one for it! But its symptoms can be relieved with adequate medical help. Albinos can experience little or no sun damage if the following can be adopted:
- sunglasses – used to block ultraviolet (UV) rays from gaining access into the eyes
- protective clothing and sunscreen – used to shield them from UV rays
- prescription eyeglasses – used to correct visual problems
- muscular eyes surgery – used to fix abnormal eye movements.
What’s the long-term outlook?
Most of the different types of the disorder especially Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, Griscelli syndrome, have no negative influence on longevity.
Limits to outdoor activities are one thing albinism can ‘impose’ on the sufferers. Their eyes and skin are highly reactive to the slightest sun rays. UV radiations from the sun can inflict cancer on their skin and could tamper with their vision as well.
Tonika Bruce, MSN, RN, MBA. is an accomplished nurse leader, published author, and personal development expert passionate about advancing healthcare management and quality patient outcomes.
She taps into the years of experience in healthcare management to produce credible and easy-to-understand health and leadership content. Her exceptional work has been featured in reputable publications, including Forbes, Recruiter, Inc, and the Color of Wellness magazine.
