Thalassemia Symptoms, Diagnosis & Treatment
Summary: As a genetic and inherited disorder, Thalassemia leads to production of abnormal hemoglobin in the human body and destroys the body’s red blood cells.
Thalassemia is a hematological or blood condition in which the patient suffers from acute bloodlessness or anemia. The patient’s hemoglobin or levels of red blood cells are found to be moderately or acutely low and acute alpha thalassemia in an expecting mother may even cause death of her baby which is yet to be born or even during childbirth.
A child may be born with Thalassemia but its symptoms start showing later in life as the child grows older and the patient may be severely anemic in his first year. Certain structural deformities may even show up n the child’s face, particularly maxillo-facial deformities, fatigue, stunted growth, respiratory disorders and jaundice in some patients. Those affected by minor forms of beta or alpha thalassemia are known to have smaller red blood cells when their blood samples are tested microscopically but are generally without any apparent symptoms.
The diagnosis for Thalassemia is generally done by testing the patient’s blood sample and doing an RBC count while clinically, it may be done if the patient has an enlarged spleen. The blood sample, when tested under a microscope, will reveal smaller RBC and a total blood count will reveal anemia. The hemoglobin electrophoresis test is usually done to detect abnormal hemoglobin. Should this fail to help diagnose and confirm the disease, mutational analysis tests can be done to confirm alpha thalassemia which remains undetected by the hemoglobin electrophoresis test.
Regular blood transfusions and high intake of folate supplements are advised as the fundamental treatment for Thalassemia. However, when the patient is undergoing transfusion, intake of iron supplements is discontinued. This is because an excessive iron build up may be harmful. In fact, chelation therapy is also done to extract excess iron in the body when transfusions are given. In cases of children suffering from the disease, bone marrow may have to be transplanted as a long term therapy. Even though these are the prescribed treatments for the disease so far, there is no cure for it yet. An acute form of the disease may lead to heart failure and premature death, particularly in patients whose age ranges between twenty and thirty. However, in moderate forms of thalassemia, the patient is expected to live much longer.
If left untreated, thalassemia usually cause acute liver problems and drastically reduces immunity and the patient becomes more prone to catching infections. prenatal screening and genetic counseling are generally advised to those who have a history of the disease and plan to raise families.