What Is Thalassemia?

Thalassemia is an inherited blood disorder that causes mild or severe anemia (uh-NEE-me-uh). The anemia is due to reduced hemoglobin (HEE-muh-glow-bin) and fewer red blood cells than normal. Hemoglobin is the protein in red blood cells that carries oxygen to all parts of the body.

In people with thalassemia, the genes that code for hemoglobin are missing or variant (different than the normal genes). Severe forms of thalassemia are usually diagnosed in early childhood and are lifelong conditions.

The two main types of thalassemia, alpha and beta, are named for the two protein chains that make up normal hemoglobin. The genes for each type of thalassemia are passed from parents to their children. Alpha and beta thalassemias have both mild and severe forms.

Alpha thalassemia occurs when one or more of the four genes needed for making the alpha globin chain of hemoglobin are variant or missing. Moderate to severe anemia results when more than two genes are affected. The most severe form of alpha thalassemia is known as alpha thalassemia major. It can result in miscarriage.

Beta thalassemia occurs when one or both of the two genes needed for making the beta globin chain of hemoglobin are variant. The severity of illness depends on whether one or both genes are affected and the nature of the abnormality. If both genes are affected, anemia can range from moderate to severe. The severe form of beta thalassemia is also known as Cooley’s anemia. Cooley’s anemia is the most common severe form of thalassemia in the United States.

Medical science is doing wonders by means of its inventions and its proper application. It has enabled mankind to show his mastery over the god. The medical professionals are curing a number of people of their diseases and giving them a new lease of life everyday. A man can change his god-gifted features wishfully with the help of science. Even gender change is no longer a matter of surprise and awe. So man is seen defying their god in a way. But still he is unable to conquer the place occupied by the almighty God; he cannot impart life to all persons who are destined die. There are many such avenues left that are to be ventured by man. So, day–by-day man is trying to reach the ultimate knowledge. 

Of late, a striking invention of medical science has made man to see a ray of hope. Patients of incurable diseases have to undergo very painful process to continue their life. The patients of Thalassemia have to live on blood transfusion throughout their life. But the invention of the procedure to cure blood disorder has shown its patients a gleaming horizon. 

The doctors claims that the cord blood or can be better explained as the blood collected from the umbilical cord of a woman, soon after her second delivery , can save her first thalassemic born child. This blood is collected after the umbilical cord has been severed from the new-born. The cord blood is a rich source of stem cell. These cells are found at different stages of foetal development. Stem cells are also present in several adult tissues. It has the potentials to cure almost 75 serious ailments, from blood disorder to heart and eye ailment to Type 1 diabetes. Diseases such as lupus, multiple sclerosis, Crohn’s disease, rheumatoid arthritis, to name a few, can be cured using cord blood. Stem cells form part of our blood and immune system and they help to grow other cells in our body’s system. Thus it is expected to be a cure for cancer also. 

The most striking feature that has made the invention more useful is the capacity of storing the cord blood. There are banking facilities where the parents can store the blood. If the first child of a couple is suffering from a blood disorder or any other disease that stem cell can cure, and the mother is expecting her second child, she could store her cord blood. This blood has the quality to cure her first thalassemic child. Number of couples is storing their cord blood for any future need. The parents who decide to store the cord blood have to undergo a proper HLA (human leukocyte antigen) match. It is a procedure through which the immune system recognizes ‘self’ and rejects ‘non-self’ cell, then the stem cell is transplanted into the patient’s body. 

There are mainly three kinds of stem cell transplantation namely adult stem cells, embryonic stem cells and cord blood cells. Here one caveat is that the stem cells taken from adult bone marrow or peripheral blood stem cells are prone to rejection while cord blood stem cells are more adaptable and acceptable. However in India, the adult stem cells are mainly collected from bone marrow. For bone marrow, a perfect 6 out of 6 HLA match is required to prevent tissue rejection. But in case of cord blood stem cells for some diseases even 2 out of 6 match will suffice, but the chance is rare as the cord blood is collected immediately after birth.