Written by Mohammed Majrashi
When it comes to blood disorders, not a lot of people know much about the different types that exist. However, Thalassemia is a common and complex inherited blood disorder that affects approximately 100,000 newborns [2]. Thalassemia is commonly present in Mediterranean countries, the Middle East, North Africa, India Central Asia, and Southeast Asia [3].
Thalassemia reduces the production of functional haemoglobin—an oxygen-carrying protein found in red blood cells. This leads to a shortage of crucial red blood cells and lower levels of oxygen in the bloodstream [1]. Normal haemoglobin is typically made up of two alpha-globin and two beta-globin [2]. As a result, Thalassemia is present in two types: Alpha thalassemia and Beta-thalassemia that have different effects on the structure of haemoglobin. For people with Alpha and Beta Thalassemia, their haemoglobin doesn’t make enough alpha and beta subunits protein because of mutations, which also determine the severity of both subtypes of thalassemia [2].
Thalassemia is inherited in an autosomal recessive fashion. In order to have the disease, both biological parents must carry one copy of the mutated gene [3]. However, the inheritance of Thalassemia can be complex depending on the type of thalassemia since multiple genes can influence haemoglobin production. For example, in alpha thalassemia, mutations occur in two different genes: HBA1 and HBA2. Normally, people have two copies of the HBA1 gene and two copies of the HBA2 gene. When each gene is deleted as part of mutations, a person can develop alpha thalassemia [1]. In special cases like beta-thalassemia, the inheritance pattern of thalassemia can be autosomal dominant, meaning that inheriting one copy of the altered gene is enough to develop beta-thalassemia [3].
The symptoms of thalassemia vary depending on the type of thalassemia a person inherits. For severe forms of thalassemia, symptoms include jaundice, a pale appearance, poor appetite, dark urine, and delayed growth and puberty. Although there is no definitive cure for Thalassemia, there are treatments for it. Blood transfusion treatments are able to replenish the body with healthy and oxygenated red blood cells that can carry oxygen to vital organs. Another treatment includes supplements like Folic Acid, which help build healthy red blood cells; however, they are not as promising as blood transfusions [4]. Other complications from thalassemia include iron overload from excessive blood transfusions, bone problems such as osteoporosis, enlarged organs (spleen, liver or heart), and susceptibility to infections [2].
Thalassemia is a crippling genetic disease that affects the structure of haemoglobin and red blood cells. This is significant because without red blood cells, distant organs and tissues will be deficient of oxygen, which can lead to severe complications such as organ damage. Currently, there is no cure for thalassemia, but there are treatments for it.
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