Thalassemia encompasses several inherited diseases, and though treatment for thalassemia may be similar, it also depends on the severity of the disease’s expression or its type. Some people who are merely carriers, or who only possess a couple of genes that cause the blood to make lower levels of iron-carrying hemoglobin may not be particularly affected. In other words, they may not require too much in the way of medical intervention. In contrast, people with more severe forms of thalassemia might need a number of interventions to help increase the blood’s ability to carry iron, which carries oxygen, and to provide the blood with the hemoglobin that it lacks.
It’s useful to have a basic understanding of this disease when evaluating the treatment for thalassemia. This is an inherited condition where people get defective genes from parents that cause errors or problems in manufacturing hemoglobin, which is essential to carrying oxygen and removing carbon dioxide. There are two protein chains that make hemoglobin called alpha and beta; four genes are inherited that affect the alpha chain and two are inherited that affect the beta chain. The more defective genes inherited, the more severe the disease, and in some cases, if four alpha genes do not work, the disease is fatal, usually before birth.
Inheriting only one or two alpha genes or a single beta gene that is defective may mean mild illness only, and treatment for thalassemia could be minimal. People might take vitamin B supplements, which aid in hemoglobin production or it’s possible they won’t require any intervention. They are potential carriers of the illness and should seek genetic counseling prior to having children.
When people inherit three defective alpha genes or two defective beta genes, treatment for thalassemia becomes different. In order to increase hemoglobin supply, people very often need regular blood transfusions, sometimes as often as once a month or more, and they may also take vitamin B supplements. Yet, transfusions create another set of issues. The body ends up with too much iron, and to address this, people often also take oral or injected chelation medicine that removes excess iron.
In very severe cases, blood transfusions fail to provide adequate treatment for thalassemia. In these instances, doctors may consider the riskier approach of a bone marrow transplant, which possibly provides the person with a means of making hemoglobin in the future. This step is usually only considered when blood transfusion and chelation are not working.
Any form of major thalassemia requires regular medical attention. The disease cannot be ignored or the consequences prove disastrous. With careful following and adequate medical support, many people can do well. Doctors are still anxious to find a cure or at least a treatment for thalassemia that would require fewer interventions.
