About K Shows Expertise I am able to answer questions regarding human medical genetics, mouse genetic studies, molecular biology, biochemistry, and cell biology. I am also able to answer questions concerning prenatal and postnatal genetic testing but am ethically unable to give advice on such test results.
Experience I have 10 years experience in human genetics, including clinical, population, and molecular genetics. I am currently an active researcher in molecular and developmental genetics at Virginia Commonwealth University/ Medical College of Virginia. I have previously taught genetics and cell biology at the college level.
Organizations American Association for the Advancement of Science (AAAS)
American Society of Human Genetics
Education/Credentials B.S., Biochemistry, University of Southern Mississippi
M.S., Human Genetics, Louisiana State University Medical Center
Ph.D., Genetics and Vision Science, University of Alabama at Birmingham
Question could u tell me where thalasemia, a genetic disorder, originated from. Since it is genetic, who is the first carrier?
Answer bg,
Thalassemia is a genetic disorder of hemoglobin synthesis, so it affects the ability of the blood to carry oxygen to the lungs. There are many different types of thalassemia that range from very mild to severe. More severe types have a characteristic facial structure as well.
Most thalassemias are very common in and originate from the regions surrounding the Mediterranean Ocean, including parts of the European coast, Middle East, and Africa, regions of the world that are most ancient. Thalassemias have been around for a long time, and there is no single "carrier" who is responsible for being the first; rather, several people probably received mutations randomly. The Mediterranean regions are known for giving rise to new genetic syndromes, possibly because the areas are ancient, population dense, and near the equator (it is a theory that exposure to more UV light can cause more mutations in a population).
A genetic disease rarely has a single ancestor, but a single mutation within a family can have a single ancestor who then passes on a specific genetic change to offspring. Most genetic diseases are represented by a variety of mutations within a single gene in different unrelated persons and so cannot have a single ancestor. For example, if a disease can be caused by mutation A or mutation B and if a person with mutation A reproduces, then all of his offspring would have mutation A, not mutation B.
There are hundreds of mutations that cause thalassemia, and involve different genes, so no one mutation can be responsible for all cases of thalassemia.
