I. What is albinism?
Albinism is hypopigmentation of the skin, eyebrows, and hair due to abnormal genetic function. It may be accompanied by retinal pigment reduction, photophobia, and iris hypopigmentation.
Is albinism hereditary?
Albinism is a hereditary disease, most of which is autosomal recessive, which means that both parents are normal, but they both have the gene that causes the disease, and there is a 1/4 chance of having a child with albinism. Some are dominant, which means that half of the children born to albinos will have the disease.
What are the causes of albinism?
At least 15 genes have been found to cause albinism, namely GPR143, MITF, OCA2, SLC45A2, TYR, TYRP1, HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3 and BLOC1S6. This means that these genetic abnormalities can cause albinism.
4. How is albinism diagnosed?
Generally, the diagnosis can be made in the dermatology department through the patient’s performance, but this is a clinical diagnosis, and for a more accurate diagnosis, the above 15 genes need to be tested.
V. Who needs to prevent albinism?
Couples who have had a child with albinism need prevention when they have another child; albinos need prevention when they have a child with albinism; and relatives in the family with albinism need prevention.
VI. How to prevent albinism?
Step 1: First, genetic testing should be performed on patients in the family who have already developed the disease to detect the causative gene mutation. (If no genetic mutation is found, prevention cannot be performed).
Step 2: Couples who intend to have children are tested for the gene mutation found in step 1 to see if they are carriers.
Step 3: If the couple is a carrier, the fetal genetic test will be done in the amniotic fluid at 16-20 weeks of pregnancy to see if the fetus has inherited the genetic mutation and to determine if the fetus has the disease.