Understanding Albinism: Genetic Risks, Prevention, and Prenatal Screening

2023-09-20 12:58:47

A couple in Mainland China gave birth to a child with albinism. They were worried that there was a genetic problem. They went to the hospital for a checkup recently and found that the two were close relatives. (Image/Pixabay)

A couple in Foshan City, Guangdong Province, mainland China, welcomed a newborn. They did not expect that the newborn child would have albinism. However, the couple were both in good health. After examination, it was found that the two were close relatives. Afterwards, they asked their elders at home to find out. The wife’s grandmother and the husband’s mother’s grandmother are biological sisters.

“Guangzhou Daily” reported that a woman surnamed Zhang gave birth to a child with albinism. Her mother-in-law suspected that she had a bad gene, so she and her husband decided to have a test to find out the cause. The results showed that the two were actually close relatives, which made the couple quite dumbfounded.

The two went home and asked their elders. It turned out that Zhang’s grandmother and her husband’s mother’s grandmother were biological sisters. Therefore, genetically, the couple were closely related. That is, Zhang’s husband was her nephew, while her mother-in-law was It’s her cousin.

Ms. Zhang later mentioned that she and her husband met at a wedding banquet in her hometown. Although she knew they were related at the time, she thought they were not close relatives, so she did not undergo genetic screening or other related examinations before marriage or pregnancy. The doctor also reminded that although neither Ms. Zhang nor her husband are albinos, they carry the same disease-causing genetic gene, so the children they give birth to will have a high incidence of the disease.

The so-called albinism is a genetic disease. Due to genetic mutations, human pigment cells cannot successfully convert tyrosine into melanin, resulting in insufficient or deficient melanin. Symptoms of albinism include mainly the eyes and skin, blurred vision, There is currently no effective treatment for symptoms such as photophobia, abnormal optic nerve fiber direction, white skin, and immune abnormalities. It should be noted that the most important thing to prevent albinism is to avoid incest, because this disease is an autologous recessive inheritance. , the chance of two closely related parents carrying the recessive gene for albinism is much higher than that of the average person.

Doctors suggest that both prenatal diagnosis and genetic screening are important. Prenatal diagnosis can detect potential genetic diseases or malformations, such as Down syndrome, Williams syndrome, etc., while genetic screening can understand the genetic status of couples. Predict possible risks of genetic diseases in the fetus.

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