Thalassemia is a type of anemia that causes a decrease in hemoglobin levels. This makes the red blood cells fragile and short-lived. It should not be confused with iron deficiency anemia, as thalassemia is usually not iron deficient.
Thalassemia: what it is
Thalassemia is a type of congenital and hereditary anemia that is very common in the Mediterranean area. It causes a decrease in hemoglobin levels due to an alteration in the synthesis or formation of hemoglobin, or more specifically, of the globin fraction of the hemoglobin chain. This makes the red blood cells fragile, with low survival, when circulating in the bloodstream.
Diagnosis of thalassemia
The diagnosis, as in any anemic syndromic process, requires a complete anamnesis, inquiring about the patient’s family and personal history, as well as an exhaustive and systematized clinical examination.
Subsequently, the hematology specialist will indicate the pertinent hematometric laboratory tests: hemogram, biochemistry with iron metabolism profile, folic acid and vitamin B12 and, if necessary, a study of erythrocyte hemoglobins to confirm the diagnosis of thalassemia.
The morphological study of a sample of the patient’s blood by the hematologist is also very useful. In it we can observe red blood cells of different morphology and small size, since they are not properly formed. Among them there is a morphological figure called a target-shaped red blood cell or dianocyte, which is characteristic but not specific to this pathology.
Types of thalassemia
Depending on the globin chain deficiency, we speak of alpha or beta thalassemia and, within it, depending on the quantification of the deficit, it is classified as: major-intermediate-minor or thalassemic trait.
Traditionally, indirectly, certain analytical data can guide us to a greater or lesser extent towards anemia of one type or another. Generally, thalassemias are reflected in the hemogram by an increase in the number of red blood cells, higher than normal, with decreased hemoglobin levels and a small erythrocyte size, which is reflected by a laboratory parameter called mean corpuscular volume (MCV). From the middle to the end of the 20th century – when the techniques of electrophoresis or quantification of the different types of hemoglobin were perfected – a formula was used that correlated the total number of red blood cells with the levels of hemoglobin and erythrocyte size, which was called the England Index, a term nowadays practically in disuse outside the purely academic field.
Signs and symptoms of thalassemia
The signs and symptoms of thalassemia are virtually indistinguishable from any anemic syndrome. Among other symptoms, it can cause
– Fatigue
– Pallor or jaundice due to increased bilirubin due to increased red blood cell destruction.
– Tachycardia
– Headache
– Discrete enlargement of the liver and spleen
How to differentiate Thalassemia from iron deficiency anemia?
The diagnostic approach to thalassemia is a source of confusion not only among the general population but sometimes even within the medical community itself. Most iron deficiency anemias are often confused with thalassemia, but this is not the case. As a general rule, thalassemia will have a normal or increased iron metabolism study, since the accelerated destruction of red blood cells releases metabolites into the bloodstream, including iron that will be deposited in the form of ferritin in the liver. Sometimes thalassemia can be accompanied by intrinsic iron deficiency, if the study of the ferric profile confirms it. If a thalassemia process is suspected, the confirmatory diagnosis will be made by sequencing the different hemoglobin bands of the hematocyte by electrophoresis.
Treatment of thalassemia
The therapeutic approach to thalassemia will depend on the degree of thalassemia being treated, ranging from simply observing the patient to treatment with vitamin supplements such as folic acid, or even, in the most extreme cases, hematopoietic stem cell transplantation.