Albinism | Imamother

amother

Rose

Wed, Jul 18 2018, 4:59 pm

It is recessive, so both parents have to be carriers. It is quite rare. My friend had two sisters who were albino, so I know how it affected them. It is common to be legally blind with albinism (this doesn't mean actually blind, just really bad vision), and that they had to be extremely careful to protect their skin even if they were going outside for just a few minutes - they basically lived in sunscreen (even under their clothes, etc.), and to protect their eyes outside with sunglasses for the same reason.

amother

Lemon

Wed, Jul 18 2018, 5:19 pm

My dh has it. There is a wide range of hair color from white blond to brown. He has impaired vision. But his vision is still better than a friend of his who also has it. He did not use sunscreen as a child. So now he has to go every four months to a dermatologist to check for the precursors of skin cancer. The dermatologist looks for spots on his skin and freezes them. His friend albinism also has to go to a dermatologist every few months.

1 in 100 white people are carriers. You need 2 carriers to have an albino child. The chance that 2 carriers will have a child that's albino is one in four.

If you already have an albino child, then you can go for genetic testing. Then you do an IVF cycle with PGD to pick out which embyros are not albinos. So don't panic if you already have an albino child.

If you marry someone with albinism, have him get tested to see if he is type 1 or type 2. Then you get tested to see if you are also a carrier of the same type. The chances of you being a carrier are 1 in 100.

amother

Royalblue

Wed, Jul 18 2018, 6:23 pm

amother wrote:

Thank you! Very helpful. We are doing IvF and pgd for a different disease (much more severe one) and was wondering if it’s worth testing for since I have 2 nieces who have it

amother

Lemon

Wed, Jul 18 2018, 7:53 pm

amother wrote:

Thank you! Very helpful. We are doing IvF and pgd for a different disease (much more severe one) and was wondering if it’s worth testing for since I have 2 nieces who have it

Yes. If you have two nieces who have it then you or your dh is most probably a carrier (whoever is related). The chances that the other spouse is a carrier is 1 in 100. If you can prevent it then why not. You can make your life easier by asking your nieces if they are type 1 or 2 so you would only need one genetic test.

amother

Royalblue

Wed, Jul 18 2018, 8:30 pm

amother wrote:

Annoying part is niece has to get tested now before they test us so they know what to test for