Thalassemia Major | Thalassaemia Major
Thalassemia is actually an inherited disease of the red blood cells genetic blood disorders and generally, thalassemia is also classified as a hemoglobinopathy. The thalassemia is caused by genetic defect whereby there is an abnormal synthesis of the hemoglobin molecule. In general, the thalassemia disease can be classified in two main distinctions where these two types of thalassemia disease are known as (α) thalassemia and (β) thalassemia.
Within these two main categories of thalassemia, there are another few different types of thalassemia and within these different types of thalassemia, (α) thalassemia major and as well as the (β) thalassemia major are known to be one of the deadliest thalassemia diseases.
For (α) thalassemia, it involves genes which are known as HBA1 (OMIM 141800) and HBA2 (OMIM 141850). The hemoglobin of people who are infected with (α) thalassemia is incapable of producing enough alpha protein so therefore results in excess (β) chain production in adults and excess ¦Ã chains in newborns. There are generally four different types of (α) thalassemia and the deadliest within these four is known as (α) thalassemia major. For (α) thalassemia major or Hydrops Fetalis, there are no alpha genes in a person's DNA so therefore, gamma globins are produced by the fetus to form abnormal hemoglobin known as Barts. Most of the time, people who are infected with (α) thalassemia major will die shortly after birth. However, there are also some extremely rare cases whereby when the (α) thalassemia major condition is discovered before birth, utero blood transfusions can help to give birth to the infected infants and after that, the infant will then require lifelong blood transfusions and delicate medical care in order to stay alive.
As for (β) thalassemia, the condition of the disease is almost the same with (α) thalassemia and the only difference is that, (β) thalassemia involves in the HBB gene HBB (OMIM 141900). With (β) thalassemia, excessive (α) chains are produced and in addition to that, these (α) chains will bind themselves to the red blood cell membranes causing permanent membrane damage. One of the most fatal types of (β) thalassemia is known as (β) thalassemia major or Cooley's anemia and if (β) thalassemia major is not treated early, death will most probably occur to the infected individual before the age of twenty. For (β) thalassemia major, the cause of this disease stems from the fact where there is a complete lack of (β) proteins in the hemoglobin of an individual. This condition is a life threatening anemia so therefore, constant blood transfusions and extensive medical care are required in order for the affected individual to stay healthy.
