Thalassmia is a genetic disorder that causes the abnormal formation of globin, which is a part of hemoglobin, the protein that carries oxygen in red blood cells.
The genes that are damaged in thalassmias are regulatory genes, which means that there will be less hemoglobin, but the hemoglobin will he healthy. In contrast, hemoglobinopathies are conditions where the globin molecules themselves are abnormal due to genetic defects in qualitative genes.
To make hemoglobin, one needs both alpha globin and beta globin. Alpha thalassmia affects one or more of the four genes that control alpha globin, while beta thalassmic affects one or both of the two genes that control beta globin. Beta thalassmia is more common.
The genes that are damaged in thalassmias are regulatory genes, which means that there will be less hemoglobin, but the hemoglobin will he healthy. In contrast, hemoglobinopathies are conditions where the globin molecules themselves are abnormal due to genetic defects in qualitative genes.
To make hemoglobin, one needs both alpha globin and beta globin. Alpha thalassmia affects one or more of the four genes that control alpha globin, while beta thalassmic affects one or both of the two genes that control beta globin. Beta thalassmia is more common.
Symptoms
Depending on how many genes are damaged, the severity of anemia ranges from no anemia at all (silent carrier) to stillborn as an infant (alpha thalassmia major). However, in addition to common anemia symptoms, anemic thalassmia patients may experience:
|
Diagnosis and Treatment
In addition to the usual complete blood count which verifies anemia, a gene test will be conducted to determine the genetic defects. An iron level test may also be included. However, it has been noted that the lab results for beta thalassmia is very similar to ones of iron-deficiency anemia, which could potentially cause fatal repercussions (as thalassmia already causes iron overload, and iron-deficiency anemia is treated by iron supplements).
Severe thalassmia is usually treated with folic acid supplements and blood transfusions. In addition, the patient may have to go through iron chelation therapy (to remove built up iron) and may have to get a bone marrow transplant. |