Diseases pt.2 Flashcards
What is Albinism?
an inherited condition which leads to someone having very light skin, hair and eyes due to having less melanin than usual in their bodies.
Cause of Albinism?
it is caused by a recessive gene, meaning. both parents must carry the gene for it to be passed on. The parents themselves do not need to have albinism.
Symptoms of a person with albinism?
pale skin
hair that is very light brown, blonde or reddish
eyes that are pink, light blue, green, gray, or light brown
eyes that are sensitive to light
a lazy eye called strabismus
back and forth movement of the eyes called nystagmus
vision problems
they are prone to sunburn and skin cancer
Treatment for albinism?
currently there is no cure for albinism and treatment is mostly focused on getting proper eyecare and monitoring the skin for any problems. A person with albinism can protect their skin by wearing sunscreen with a high sun protection factor of at least 30SPF and wear special glasses or contact lenses to protect their eyes from the sun.
What is hemochromatosis?
a genetic disorder characterized by an excessive absorption of dietary iron by the body. This excess iron accumulates in various organs particularly the liver, pancreas, heart and joints. Overtime this buildup can lead to organ damage and dysfunction
Causes of hemochromatosis?
can be linked to mutations in the gene that regulates the absorption of iron from the intestines. Mutations can lead to excessive iron absorption, causing iron buildup in the body.
Certain chronic diseases can contribute to secondary hemochromatosis. These conditions can disrupt normal iron regulation in the body, leading to itron overload.
Prolonged exposure to high levels of dietary iron intake. Can also contribute by increasing iron levels beyond the body’s capacity to regulate
Symptoms of hemochromatosis?
fatigue, joint pain, abdominal pain, skin changes and weakness & loss of libido
Treatments for hemochromatosis?
Phlebotomy - this involves regularly removing blood from the body, similar to blood donation. This helps reduce iron levels by lowering the amount of iron-rich red blood cells.
Iron Chelation Therapy - this is considered in cases where phlebotomy may not be suitable. This treatment involves medications that bind to remove excess iron in the body forming compounds that can be removed through urine or stool.
What is down syndrome?
a congenital genetic disorder which is characterized by unique physical characteristics, differing degrees of intellectual disability, and delays in development
Cause of down syndrome?
it is brought on by an extra copy of chromosome 21. Human bodies normally have 23 pairs of chromosomes in each cell. However, people with down syndrome have an extra copy of chromosome 21, making the total number of copies three instead of two.
Treatment for down syndrome?
there is no current cure for down syndrome but programs used to support people with down syndrome are physical therapy, occupational therapy and speech therapy. Other treatments include Social support and Behavioral therapy
What is sickle cell anemia?
an inherited blood disorder marked by defective hemoglobin. It inhibits the ability of hemoglobin in red blood cells to carry oxygen. Sickle cells tend to stick together, blocking small blood vessels causing painful and damaging complications.
Cause for sickle cell anemia?
caused by mutations in the beta globin genes that leads to faulty hemoglobin protein called hemoglobin S. It changes flexible red blood cells into rigid, sickle-shaped cells. These sickle cells block blood flow and result in pain and organ damage
Treatment for sickle cell anemia?
it is usually aimed at avoiding pain episodes, relieving symptoms and preventing complications. Treatments include medications and blood transfusions
