Hi orangeblosson and julespap,Orangeblossom wrote:I don't know enough about it, but it sounds from that article like a positive trait to have...interesting that it is often found in Mediterranean countries, wonder if that might explain some of their good health?
Sadly, the beta thalassemia gene does not explain the good health of Mediterranean people or the benefits of their diet. It is more common in people of Mediterranean ancestry, and is similar to another hemoglobin-related disease, sickle cell anemia.
It becomes a serious problem when two people with this trait have children, since it conveys a 50% risk with each pregnancy that the child will inherit the trait from each parent and be diagnosed by age one with thalassemia major, sometimes also called Mediterranean Anemia or Cooley's anemia.
I had a good friend in college whose two younger sisters had this disease, and even as children they experienced frequent transfusions and repeated hospital stays. Each died in early adulthood, as this is a progressive disease, with currently no known cure, although a dedicated group of supporters is working towards gene therapy, as noted below.
Sickle cell disease and thalassemia are genetic disorders caused by errors in the genes for hemoglobin, a substance composed of a protein ("globin") plus an iron molecule ("heme") that is responsible for carrying oxygen within the red blood cell. These disorders can cause fatigue, jaundice, and episodes of pain ranging from mild to very severe. They are inherited, and usually both parents must pass on an abnormal gene in order for a child to have the disease. When this happens, the resulting diseases are serious and, at times, fatal.
Here's a brief explanation of the significant difference in being heterozygous for the thalassemia trait:
https://www.medicinenet.com/beta_thalas ... rticle.htmThe person is said to be heterozygous for beta thalassemia. Persons with thalassemia minor have (at most) mild anemia (slight lowering of the hemoglobin level in the blood). ... Thalassemia major (Cooley's anemia): The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene
And here's what children with thalassemia endure:
https://www.medicinenet.com/beta_thalas ... emia_majorInfants with thalassemia major are well at birth because of a special form of hemoglobin present in the fetus and newborn. Eventually, however, this hemoglobin is replaced by defective hemoglobin. Symptoms emerge late in the first year of life. The child develops pale skin, irritability, growth retardation, swelling of the abdomen due to enlargement of the liver and spleen (hepatosplenomegaly) with jaundice. This is associated with severe anemia with rupture of the red blood cells (hemolytic anemia). The child with thalassemia major becomes dependent on blood transfusions and, although they do help, they create further problems including iron overload. Folic acid supplementation is often given. At this time, the primary treatments are directed at relieving symptoms of the illness. Selected patients may qualify for bone marrow or stem cell transplants. Gene therapy remains a potential treatment for the future.
The long-term hope is that thalassemia major will be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine.
Genetic homozygous diseases like this are one reason when I am asked in a Clinical Trial "Do you think that AD is the worst disease someone can have?" I always "strongly disagree."
And julespap, I am so glad that you are healthy!
