Showing posts with label Beta-Thalassemia. Show all posts
Showing posts with label Beta-Thalassemia. Show all posts

Wednesday, September 22, 2010

Thalassemia - The Blood Problem

Definitions -
anemia: a condition marked by a shortage of red blood cells in the blood, giving a person symptoms of  weariness and turning pale.

thalassemia: a genetic defect caused by the body not being able to produce enough hemoglobin that works. This happens when one of the hemoglobin chains that make up a hemoglobin, cause the normal hemoglobin to be abnormal, creating anemia.

beta - thalassemia: when neither one of the beta-globin genes inherited from the parents work completely; one is either useless or produces an unstable protein, and/or the other is completely broken.
 
Hemoglobin: a red protein that moves oxygen through the body by the bloods stream.

Summary -
A boy, from the age of three to eighteen years old, had been given blood transfusions regularly. He has beta-thalassemia, an inherited condition that makes it difficult for oxygen to be distributed throughout his body easily. About twenty-one months ago, he was given gene therapy, which is the act of editing faulty genes within living cells in order to treat diseases. The doctors were able to partially correct the faults in his genetics to give him the freedom he has been deprived, since he was diagnosed with his condition.

Gene Therapy

Discussion -
This article does not relate to my life in any way, but I chose it because ever since my little brother was born, I have been curious as to how the human body functions and why. Also gene research is an interest to me, because the number of people we have to day living on the planet, it still amazes me that not one of them is an exact duplicate of another. Even identical twins are not entirely identical, because when the fertilized egg split in half to form two eggs, one twin does not have half of what the other twin has and vice-versa.

Questions - 
  1. If a couple that both has thalassemia only has one child, or two, but not the four shown in the diagram to the right, then how could they know before the birth of the child whether or not he or she has thalassemia, and what kind would it be?
  2. If a couple does not have thalassemia, but one of the spouse's siblings do, is it possible to inherit a form of thalassemia from an aunt or uncle?
  3. Does thalassemia ever skip a generation like some genetic diseases do?
    Citations - 
    • http://blogs.discoverymagazine.com/notrocketscience/files/2010/09/Gene_therapy.jpg 
    • "Gene Therapy Saves Patient from Lifetime of Blood Transfusions." Discover, Science, Technology, and the Future. N.p., n.d. Web. 23 Sept. 2010.  <http://blogs.discovermagazine.com/notrocketscience/2010/09/15/gene-therapy-saves-patient-from-lifetime-of-blood-transfusions/>.