Question

Perhaps you an /or your significant other is a carrier of a harmful recessive trait, such as cystic fibrosis. What would you do when considering having children? Would you hope for the best and ignore the situation or would you see a genetic counselor or what? 2. Choose a genetic disorder other than those discussed in the class notes and tell us about it. You should include effects, survival rates etc.

Answer 1

I would meet a genetic counselor .

Sickle-cell disease It is also known as sickle-cell anaemia (SCA), is a group of genetically passed down blood disorders.It results in an abnormalitv in the oxvgen-carrying protein haemoglobin found in red blood cells. This leads to a rigid sickle-like shape under certain circumstances.Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain ("sickle-cell crisis"), anemia, bacterial infections, and stroke. Long term pain mav develop as people get older. The average life expectancy in the developed world is 50 years. Sickle-cell disease occurs when a person inherits two abnormal copies of the haemoglobin gene, one from each parent.Several subtypes exist, depending on the exact mutation in each haemoglobin gene. An attack can be set off by temperature changes, stress, dehydration, and high altitude. A person with a single abnormal copy does not usually have symptoms and is said to have sickle-cell trait. Such people are also referred to as carriers.Diagnosis is by a blood test and some countries test all babies at birth for the disease. Testing is also possible during pregnancy Sickle cell disease (SCD) affects millions of people throughout the world and is particularly common among those whose ancestors came from sub-Saharan Africa; Spanish-speaking regions in the Western Hemisphere (South America, the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries suclh as Turkey, Greece, and Italy. It is estimated that: SCD affects approximately 100,000 Americans. SCD occurs among about 1 out of every 365 Black or African-American births. SCD occurs among about 1 out of every 16,300 Hispanic-American births. About 1 in 13 Black or African-American babies is born with sickle cell trait (SCT)