Transcript Slide 1
Nicole Rodriguez Ashley Contreras Daisy Bejarano Genetic Counseler How did the child get the disorder? Albinism is inherited. The child received an albinism gene from his/her parents. For the most common form of albinism both parents have to carry the gene for albinism but there is still a 1 in 4 chance that the child will inherit the trait. If just one parent carried the Albinism gene and the other parent carried a normal pigment gene their children wouldn’t inherit the gene but there will be a 1 in 2 chance their kids will be carriers. If a child who is a carrier marries and has children with another carrier, there is a 1 in 4 chance their baby will have Albinism. What is the survival rate? Is it treatable? Although there is no cure for Albinism, Albinos can live a long healthy life. There are some extremely rare cases in which Albinism can lead to more serious health complications like lung, bowel and immune system problems. What are treatments, if any for this disorder? People living with Albinism often have trouble with their eyesight. They may be acquired to wear glasses or contact lenses to correct eye problems such as: nearsightedness, farsightedness and astigmatism. There is also sensitivity to light because there is not enough color in the iris to protect the retina. Aside from giving color to the hair, eyes, and skin melanin helps protect our skin from the sun. Since Albinos lack skin pigmentation they are more susceptible to skin cancer. To avoid contracting skin cancer, it’s important to wear sunscreen with a high SPF number, dark clothes, hats, long sleeves and jeans all the time. Besides the symptoms, what tests can be done to diagnose the disorder? Albinism has a very distinct trait of pale hair, skin and eyes. Some may have a mild case which results in having light brown or blue eyes while others have a severe case with red eyes. Since this disease can be seen from the outside there are no symptoms or tests that can be performed to identify the problem as Albinism. What biotechnological applications are currently being used in the fight against this disease? There are no biotechnological applications being done to help cure albinism. Since Albinism is genetic, there are no cures for genetic disorders. Disorder Specialist What is the type of disorder - gene or chromosomal? Albinism is a genetic disorder. If gene, is it dominant or recessive? It is caused by a recessive allele. What the karyotype of this disorder looks like? Since Albinism is caused by a recessive gene it cannot be seen through a karyotype because it is not a chromosomal abnormality. What are the signs and symptoms of the disorder including a detailed description of how it affects the human body? A Person with albinism has little or no pigment at all in their skin, eyes or hair. There are many different types of the disorder. This is because they lack the gene that produces melanin, which is skin pigment. People with albinism suffer from vision problems. Vision problems result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. The presence of these eye problems that defines the diagnosis of albinism. Eye Problems and Albinism Red Eye Myth A common misconception is that people with albinism have red eyes. Usually people with albinism have blue or grey eyes. Some even have hazel or brown eyes. Some do have a slight red or violet tint to their eyes, but that isn’t common. What different tests could have been provided to the parent to have found out about this disorder before its birth? Amniocentesis which is drawing fluid from the mother's uterus while she is pregnant. What other names or abbreviations are used for the disorder? There are no other names for albinism Parent What kind of lifestyle your child will have with this disorder? He/she will have a pretty normal life. he/she won’t ]have 20/20 vision, it is obvious that it will have to wear contacts or glasses. My son or daughter won’t be exposed frequently to the sun. if so, he will use sun block lotion. Children at school can be brutal and mean, but with the support of family and love ones he/she will have a normal life. How long your child will live ? Albinism doesn’t affect on how long my child will live. If your child with the disorder will be able to have children of his/her own and if his/her children will be affected? Probability their off springs will have the disease if both parents have to have a gene carrier of recessive allele that contains albinism. There is a probability that ¼ of their children will have albinism. If you were to have more children, what is the probability that another child will be affected by the same disorder. If both my husband I are gene carriers there is a probability of having another child with the disease more –probability that it wont. http://static.howstuffworks.com/gif/albinism-2.jpg http://johnkemeny.com/blog/wp- content/uploads/2006/06/albinism.jp http://www.albinism.org Dowshen MD, Steven. "Albinism." KidsHealth - the Web's Most Visited Site about Children's Health. Jan. 2008. Web. 27 Feb. 2011.