What is Alpha-thalassemia?
Alpha-thalassemia is a type of thalassemia that involves the HBA1 and HBA2 genes. This inherited blood disorder results from impaired production of hemoglobin impacting the carried oxygen in the blood.
Usually, normal hemoglobin is built up of two chains, the alpha chains, and two beta chains. In alpha-thalassemia, there is a significant quantitative decrease in the amount of alpha chains, resulting in fewer normal hemoglobin molecules. Moreover, the decline in alpha-thalassemia leads to the production of unstable beta-globin molecules which cause increased red blood cell destruction.
Recently, some researchers from Italy, Lebanon, and Thailand put Alpha Thalassemia among a new category known as Non-Transfusion-Dependant-Thalassemia (NTDT).
Alpha-thalassemia patients may suffer from different signs and symptoms like:
- Anemia
- Jaundice
- Delayed growth
- Enlarged spleen
- Gallstones
- Pronounced forehead:
- Extramedullary hematopoesis
The diagnosis of alpha-thalassemia is usually simple and straightforward. Both laboratory tests and molecular diagnosis are needed. But sometimes it could be mistaken for iron-deficiency anemia on a full blood count or blood film, as both conditions have microcytic anemia. Both, Serum iron and serum ferritin can be used to exclude iron-deficiency anemia
Several treatments could be used to treat Alpha-thalassemia based on the phenotype and severity of the case.
- Blood transfusions
- Splenectomy
- Stem cell transplantation
- Gene therapy
- Chelation therapy (Deferasirox) to remove excess iron
