Thalassemia trait is an inherited blood disorder that presents clinically with symptoms similar to iron deficiency anemia. To differentiate and diagnose the specific condition causing the anemia, help from an expert like Internal Medicine Specialist in Karachi is needed. Read on to know more about thalassemia and anemia:
Anemia vs thalassemia trait?
Thalassemia is the disorder of the hemoglobin in which the globin chains are malformed. There are many types of thalassemia, with varying severity and symptoms. In people who carry the genes of thalassemia—also known as trait—the symptoms may be mislabeled as iron deficiency anemia. The other types of thalassemia are: alpha and beta.
The reason why thalassemia trait gets mislabeled as iron deficiency anemia is because the lab values of iron deficiency anemia and thalassemia trait present similarly. The hemoglobin count is low in both, on first glance, along with the mean corpuscular volume (MCV) and the size of the red blood cell. Many people with low red blood cell count and small cells on microscopy get a preliminary diagnosis of iron deficiency.
Iron deficiency anemia can be distinguished from thalassemia trait through investigations like serum ferritin levels and red blood cell count. In thalassemia trait, both these investigations are normal as the body has adequate iron stores. In addition, thalassemia has more specific tests for diagnosis that also evaluates the hemoglobin type produced.
What are the symptoms of anemia?
A carrier of thalassemia will have no symptoms, or very mild symptoms like anemia. On the other hand, patients with thalassemia major have severe symptoms and need monthly transfusions.
How is thalassemia diagnosed?
The diagnostic test for thalassemia is hemoglobin electrophoresis. This investigation evaluates the hemoglobin in the blood of the patient. For instance, in people with beta thalassemia trait, there is hemoglobin A2 with or without HbF (fetal hemoglobin).
For alpha thalassemia trait, there is no simple investigation. This is usually the diagnosis of exclusion after iron deficiency anemia and beta thalassemia trait are ruled out.
Diagnosis of thalassemia can also made by the healthcare provider on physical examination, if the disease is severe. For instance, people with thalassemia major will have enlarged spleen that the doctor will palpate on abdominal examination.
What are the risk factors of thalassemia?
Thalassemia is a genetic disorder; it is passed down from the parents to the children. The type of thalassemia a person has depends on the gene that was passed down to them. For instance, if two beta thalassemia carriers have a baby, there is a chance for that baby to have beta thalassemia major. But if a person inherits alpha thalassemia trait from the mother, but normal alpha genes from the father, they would only be carriers themselves, and the disease would not manifest.
Thalassemia trait means that you have no symptoms, but the disease is still transmissible to the next generation. Thalassemia traits are common in Mediterranean countries like Turkey and Greece, along with other Asian countries, the Middle East, and Africa.
What are the treatment options for thalassemia?
For severe thalassemia, treatment options include monthly blood transfusions, medications, supplements, bone marrow transplants, and surgery for spleen removal if need be.
No treatment is mandated for thalassemia trait by experts like Internal Medicine specialist in Lahore. Instead, carriers should remember that this is a lifelong condition with mild anemia and small red blood cells. Carriers of thalassemia should not take iron supplements, unlike people with iron deficiency anemia, as it may cause iron overload in the body. Thalassemia trait usually presents no health issues to the carrier, but if their spouse is also a carrier, they have a 25 percent chance of having a child with thalassemia.