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Albinism - Diagnosis

Last Updated on Dec 08, 2020
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How can we Diagnose Albinism?

Albinism can be diagnosed merely by observation of major or total absence of pigmentation of the skin, hair and eyes.

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Other tests to diagnose albinism include -

Genetic Testing -

Genetic testing is the most accurate way to diagnose albinism and its specific type. This is helpful in families with albinism and is useful for specific, isolated populations who carry the trait in them.

Eye Examination -

An ophthalmologist should perform a complete examination of the eye of an affected individual. An electroretinogram test should be done to determine vision problems in albinism.

Chemical Testing of Hair -

Chemical testing of hair also provides an easy confirmation of the diagnosis of albinism.

  • Hairbulb pigmentation test- It can be used to identify carriers. It is done by incubating a piece of the person's hair in a solution of tyrosine, an amino acid the body uses to make melanin. If the hair turns dark, it means the hair is making melanin. Light hair means there is no melanin synthesis.
  • Tyrosinase test- It is more precise than the hairbulb pigmentation test. It measures the rate at which hair converts tyrosine into another chemical (DOPA), which is then made into pigment.
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Blood Test -

Recently, a blood test has been developed that can identify carriers of the gene for some types of albinism.

Prenatal Diagnosis Of Albinism-

Amniocentesis and chorionic villus sampling can also diagnose some types of albinism in pregnancy.

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Comments

whitechocolate

i would like to clarify something. i am a Nigerian girl with albinism. i have a light complexioned skin and yellow-blonde hair. i do not regularly use sunscreen but i go out on a daily basis. the sun is hot but i hardly get sun burns. generally, the sun is not good for anyone. don't put this as if albinos would melt under the sun. i wear long sleeved clothes but many times, i love short sleeved clothes just to flaunt my smooth skin. albinism is not a disability or a kind of sickness that requires treatment. one has to carefully take care of oneself. i see albinism as a mere variation, not a genetic disorder. at least, i have the chance to be African and non African [in terms of complexion and hair colour] at the same time. many people do not have that privilege. i also see clearly, without glasses. i use shades when i am outdoors, but not always. my eyes are green, not blue

YuminReed

It's great that you feel comfortable in your own skin and can find upsides to having albinism. However, scientifically, albinism is a genetic disorder. The normal human does not have albinism, and albinism is caused by a mutation in the genes where there is a lack of pigment in the skin, hair, and eyes. Though the symptoms of albinos vary from person to person, it is a fact that albinos are more prone to sunburn due to their pale complexion, just like people with lighter skin are more prone to sunburn than darker skinned people. It is also a fact that the average person affected with albinism is more prone to eye issues due to the lack of pigment in their retinas. Again, it is not the case that all people with albinism have eye issues, but it is much more probable. Albinism is a genetic disorder, as it is a recessive mutation in the chromosomes. This article is correct, and albinos usually do require more treatment than someone who has more pigment in their hair, eyes and skin.

shah1

hi i m an allied health professional and doing my research on the visual outcome with different optical aids of albinos to enhance their activities of daily life so plz any of u if have informaation about albinism plz send it on my id

@Guest

hi
i have 2 kids having Albino
11 years old and 9
i live in Middle East and ready to travel anywhere if there,s a treatment to improve their vision and life, do u recommend me to do any test before having my 3rd baby, bcz i held this issue fearing that my 3rd baby could have the same prbl. thanks and waiting for reply

best regards
Moulham Shami
Syrotec- G.M

@Guest

Hey doc,my son's father is hypo pigmented,he was born with it.I think my son is hyper pigmented,is this possible?Just asking because they are a little different but I heard it runs in families.

pink_y

Hi, I am an albinic girl. I am 29 years old. I am orried about if I marry a guy than shall I have a normal baby or an albenic. What are the risk factors. Please help

Jboyismyfriend

Yeah, in Biology, I learned things such as Punnet Squares. If 2 capital A’s are in the genotype [AA], then they are not albino. If 2 lowercase a’s are in their genotype (aa), then they will be. If it is one of each (Aa), then they will not be albino, but they can pass it on to their kids. You have aa. Someone without albinism in their family at all is AA. If you marry that dude, your child will be Aa (they will not show albinism, but they can pass it on to their kids. If they marry someone with AA, the child will have a 50% chance of AA and a 50% chance of Aa ). If you marry someone with albinism in their family (Aa [actually, they could be AA also, but it is unlikely {it all depends on the parents}]) then your child will have a 50% chance aa (full albino) and a 50% chance Aa (pass it on to their children). Hope that helps. For more info, Google Punnet Squares.

reset

male cant pass any symptoms because, they are XY and only the X holds the phenotype. female are XX so they can pass the phenotype. also male that has it cant hide it, because there is only 1 X. the X holds the genes so female may get XA Xa and that hide the phenotype because there is another X with lower case a.

YuminReed

This only occurs if the disorder is X-linked. In this case, it is not. Albinism is recessive and he may have the gene for it, making his gene Aa.

Lexis83

YOUR KIDS WILL NOT BE BORN ALBINO, I HAVE 3 KIDS AND 1 ON THE WAY AND I AM ALBINO...MY KIDS FATHERS ARE AFRICAN AMERICAN AND MY KIDS ARE LIGHT SKINNED.

slinkey3

ok so im a freshmen and i wanted to know if albinism occures more in humans or animals

Alone

Can anyone tell me will my children have albinism if i marry a girl whose father have albinism?

awesome

you can go to genetic counceling to see if your children have a chance of having albinism. its all in genetics.

Jboyismyfriend

Yeah, just see 2 comments up [pink_y]. Or, just read what I commented here: Yeah, in Biology, I learned things such as Punnet Squares. If 2 capital A’s are in the genotype (AA), then they are not albino. If 2 lowercase a’s are in their genotype (aa), then they will be. If it is one of each (Aa), then they will not be albino, but they can pass it on to their kids. You have aa. Someone without albinism in their family at all is AA. If you marry that dude, your child will be Aa (they will not show albinism, but they can pass it on to their kids. If they marry someone with AA, the child will have a 50% chance of AA and a 50% chance of Aa ). If you marry someone with albinism in their family (Aa [actually, they could be AA also, but it is unlikely {it all depends on the parents}]) then your child will have a 50% chance aa (full albino) and a 50% chance Aa (pass it on to their children). Hope that helps. For more info, Google Punnet Squares.

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