Thalassemia is a blood condition that is inherited causing problems in the body’s manufacturing of hemoglobin. This disorder leads to anemia, which is an insufficient amount of red blood cells in the body.
One function of hemoglobin is to transport oxygen from the lungs to the tissues. Another of its important function is to help remove waste product of carbon dioxide. When a person suffers from thalassemia, the creation of hemoglobin is disrupted. Unhealthy hemoglobin enters the blood stream along with the healthy red blood cells (RBCs) causing the RBCs to function improperly. The healthy RBCs eventually die off resulting in anemia. Contributing to this disease is the spleen. This organ may suffer from a certain problem causing it produce insufficient amounts of RBCs in the body.
Modern science has observed that thalassemia can be passed on from parent to child. When one or both parents have this condition, it will be passed on to their offspring. It is believed that when a grandparent or a parent is positive with thalassemia, the child will suffer from a minor case of this disease; when both grandparents and/or parents have it, then the offspring will likely suffer from a severe case of thalassemia.
The Symptoms and Signs of Thalassemia
The manifestations of thalassemia may vary. They depend on the severity of the genetic defect. If the condition is severe, the body produces less hemoglobin resulting in a severe type of anemia. Mild thalassemia may not exhibit any symptoms at all and if it does, it results in mild but long-term anemia.
A person suffering from severe thalassemia more often than not also suffers from severe hemolytic disease. In this condition, the RBCs are constantly destroyed and the body is not fast enough to replace the destroyed RBCs. Severe thalassemia maybe diagnosed in children as young as 1 year of age. Its symptoms include bony abnormalities particularly of the facial bones, enlarged liver and spleen, failure to thrive, yellow-colored skin (jaundice), and paleness.
Thalassemia Risks and Causes
People whose grandparent/parent has thalassemia are high at risk to acquire this disease. It more commonly occurs among Asian, Mediterranean, and African people.
Prevention
Once the child is born, there is no way that thalassemia can be prevented. Thalassemia parents and those with a family history of it may find counseling to be helpful. Based on medical statistics, there is a ¼ likelihood that both parents carrying the thalassemia gene will bear a child suffering from a severe case of this disease.
Diagnosis
Blood tests can be helpful in diagnosing thalassemia. Blood sampling is done to determine abnormal blood cell structure, small red blood cells, low hemoglobin levels, or low red blood cell count. More complex genetic examinations may be needed occasionally.
Thalassemia Long-term Effects
Mild cases of thalassemia often do not lead to longstanding problems. Severe thalassemia, on the other hand, may lead to general growth problems, darkened skin, bone development problems, stunted growth, and even death.
Risks to Others
Being an inherited disorder, an affected individual can pass this disease on to his/her children.
Treatments
The affected person may be required to undergo regular blood transfusions. He/she may also need to take nutritional supplements and folic. In traditional Chinese medicine, treatment for thalassemia requires the restoration of the spleen to its normal function enabling it to manufacture health and adequate amounts of RBCs.
A person requiring regular red blood cell transfusions may eventually suffer from iron overload which can be dangerous. Too much iron may accumulate in certain body tissues and may result in diabetes, liver disease, and skin discoloration.
Clinical trials are still being done to test the effectiveness of certain therapies for thalassemia. These include specific gene therapy targeted at the abnormal chromosomes, infusions of starter stem cells, bone marrow transplant, and drugs that are similar to those used in chemotherapy to alter the abnormal hemoglobin genes. These are all under the testing stage and all are dangerous therapies.
Blood transfusion has it risks. It may result in hepatitis, infection, and allergic reaction.
It may take a month of treatment using traditional Chinese medicine modalities to overcome the condition although for certain people, it may take longer.
Amy-Sui Qun Lui is a board certified and licensed acupuncturist in Cleveland, OH and the founder of Asian Health Center.