Beta thalassemia is a genetic blood disorder where the body does not produce enough hemoglobin, which is needed for healthy red blood cells. This can lead to anemia and other health problems.
Full definition
I've probably had over 10,000 needle sticks throughout my lifetime, because I have a genetic illness
called Beta Thalassemia Major.
Could Anti-Erythropoietin Receptor Antibodies Be the Future Management
of Beta Thalassemia Intermedia?
Biotech CRISPR Therapeutics is also joining the queue, as they use a similar approach in a clinical trial
for beta thalassemia that's slated to begin this year in Europe.
The first published human embryo — editing work, in 2015, used nonviable embryos and targeted a gene mutated in the heritable blood
disorder beta thalassemia.
For instance, a couple who each suffers
from beta thalassemia might only have healthy children free from the inherited blood disorder if they were able to produce embryos in which the genetic defect was corrected using gene editing.
The technique is also inefficient, correcting only a small percentage of gene mutations, and transplantation success has proven rare in clinical trials testing gene therapy to
treat beta thalassemia.
Mia's statement above reminded me of an inherited trait I have which is Mediterranean anemia: Better known today as thalassemia (or
as beta thalassemia or thalassemia major).
Carrier screening
for beta thalassemia and related hemoglobinopathies is recommended by ACOG via complete blood count and hemoglobin electrophoresis for people of African, Southeast Asian, Mediterranean, Middle Eastern, and West Indian descent considering having children.
Other plans include using CRISPR to reverse blood disorders, such as sickle cell anemia and
beta thalassemia, caused by mutations in the hemoglobin gene.
Some of the initial experiments involve blood disorders like sickle - cell disease and
beta thalassemia.
In the two leading disorders caused by HBB mutations, sickle cell anemia and
beta thalassemia, red blood cells can't effectively carry oxygen.
Beta thalassemia is a genetic disorder characterized by anemia and fatigue as well as bone deformities and organ problems.
Less than 2 % of diseases, such as cystic fibrosis, Huntington's chorea, and
beta thalassemia, result from a single faulty gene, and only about 5 % of cancer patients can attribute their diseases to heredity.