Thalassemia is a genetic disorder caused due to the mutation in genes responsible for the formation of hemoglobin. Thus, abnormal hemoglobin leads to low level of red blood cells causing anemia. Various treatment strategies, depending upon the severity, are adopted by medical professionals.
Can Thalassemia Be Cured?
The disease of thalassemia may be cured with stem cell transplantation when diagnosed in the early stages. The treatment of thalassemia depends upon the type and the severity of the disease. There are two types of thalassemia- alpha and beta and the severity are defined by the number of genes that gets mutated. More the number of gene mutations more are the severity of the disease. Following are the general treatment strategy adopted by the medical professional for the treatment of thalassemia.
Blood Transfusion: Thalassemia is the condition characterized by the production of abnormal hemoglobin. As the number of red blood cells decrease, anemia may develop. The development of anemia may cause tiredness and pale skin. Blood transfusion is the mainstay for the treatment of thalassemia major. This helps in the replenishment of hemoglobin and red blood cells leading to improve the symptoms of anemia. Patients with severe thalassemia require 10-12 transfusion in a year while with less severe thalassemia requires 7-8 transfusions per year. The transfusion is increased in the conditions when more energy and oxygen is required such as stress, infection, and illness.
Stem Cell Transplant: Thalassemia is the condition of formation of abnormal hemoglobin and red blood cells. Thalassemia also causes a reduction in red blood cells. The main abnormality occurs in the erythropoiesis process in the bone marrow, thus bone marrow transplant is another viable option for the management of the disease. The stem cell transplantation involves three important processes for transplanting new bone marrow:
- Removing the abnormal bone marrow: In this step, the abnormal bone marrow is removed with the help of certain chemotherapeutic agents. The drug majorly used for this process in busulfan which destroys the older bone marrow.
- Creating an environment for transplantation: As the new bone marrow is the tissue obtained from another body, thus the host’s immune system will act against the new bone marrow creating a hostile environment. Thus, a tolerant environment should be created that allow the bone marrow to grow in the body. The drug which is used for creating such an environment is cyclophosphamide, which has an excellent immunosuppressive effect. It is an important part in the transplant process as the graft-versus-host disease (GVHD) is life-threatening condition leading to fatal consequences.
- Transplanting bone marrow: The bone marrow is transplanted in place of the older bone marrow.
Gene Therapy: The disease is caused due to the genetic mutation which results in the production of abnormal hemoglobin. Thus, gene therapy is an important and viable approach for the treatment of thalassemia. Gene therapy can be done through a variety of processes including the transfer of genes through oncoretroviral or lentiviral vectors. The other methods which can also be used include stop-codon read through and splice-switching.
Iron Chelators: The red blood cells are destroyed at a higher rate as compared to the normal person leading to accumulation of iron in the body. Further, a blood transfusion, which is the primary therapy for thalassemia, also increases the concentration of iron in the body. This results in iron overload and iron toxicity. This increases the accumulation of iron in vital organs such as the liver and heart. Iron chelators are used to chelate the excess iron from the blood. The drugs used are deferoxamine or deferasirox.
Surgery: As the body is deficient of red blood cells which results in anemia, the bone marrow is under high pressure to produce RBC. This results in the bone deformation. To correct the bone deformation, surgery is required.
Generating Fetal Hemoglobin: This approach is under clinical trials and is currently not available to patients of thalassemia. The fetal hemoglobin inducers are administered to the patient and the severity of the disease is reduced. A study concluded that almost 50% of the patients responded to the treatment. Hydroxyurea is generally used as fetal hemoglobin inducer.
The treatment depends upon the type and severity of thalassemia. Various treatments include blood transfusions, stem cell transplant, surgery and use of iron chelators. Therapy-related to fetal hemoglobin inducers is currently under clinical trial.