Characteristics
Thalassemia refers to a group of inherited disorders that mainly affects people of Mediterranean, south Asian, southeast Asian, or Middle Eastern origin. It is characterized by an abnormal production of hemoglobin, a protein in red blood cells that carries oxygen. This abnormal hemoglobin production leads to an increased destruction of red blood cells, depriving organs, and tissues throughout the body from the oxygen they need to make energy and thrive.
A hemoglobin molecule is made up of 4 protein chains: 2 alpha and 2 beta globin chains. The alpha globin chain is encoded by 4 genes (2 inherited from each parent) while the beta chain is encoded by 2 genes (one from each parent). Depending on the genes that are defective in a patient, the thalassemia is referred to as thalassemia alpha, or beta. In addition, the number of defective genes determines the severity of the disease. This level of severity is indicated by the terms ‘minor’, ‘intermedia’, or ‘major’. While a person who has thalassemia minor may only experience mild anemia, a patient with thalassemia major often experiences severe symptoms, requiring regular treatment. It's also possible to be a "carrier" of thalassemia (‘thalassemia trait’). While these persons are usually asymptomatic, they can pass the defective gene on to their children. In this respect, it is important to test both future parents for carriership to assess the risk of having a child with severe thalassemia.
Patient materials
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Symptoms
If a person is missing one alpha gene, he/she is likely not to have any symptoms. Similarly, also patients missing two alpha genes or one beta gene may be asymptomatic, although they can also experience some mild anemia symptoms, such as fatigue.
Patients with 3 defective alpha genes, or 2 defective beta genes generally experience (severe) anemia symptoms from very early in life (during 1st lifeyear). These symptoms include fatigue and weakness, a poor appetite, a pale or yellowish skin (jaundice), a very dark urine and bone deformities in the face. In addition, children with more severe thalassemia forms may have growth problems and a delayed onset of puberty.
Diagnostic tests
Most children with moderate to severe thalassemia show signs and symptoms within their first years of life. If there is a suspicion for thalassemia, a blood test is performed to confirm the diagnosis. These blood tests can reveal a low number of red blood cells and abnormalities in their size, shape, or color. A further confirmation of the diagnosis can be obtained using a hemoglobin electrophoresis or genetic (molecular) testing on blood cells.
Treatments
The standard treatment for patients with thalassemia intermedia, or major consists of blood transfusions. The frequency of these transfusions depends on the severity of the anemia. An important complication from these regular blood transfusions consists of iron overload in which an excessive amount of iron in the blood can cause organ damage. To prevent this, thalassemia patients often receive iron chelation therapy to remove excess iron from the blood.
Recently, the drug luspatercept became available for a subgroup of patients with transfusion-dependent beta-thalassemia. Luspatercept stimulates the body to produce more red blood cells, reducing the blood transfusion dependency of patients.
The only curative treatment for thalassemia consists of a stem cell transplantation. However, given the considerable risk that comes with such a procedure, this treatment option is not used on a regular basis for this indication.
Relevant patient organisations
Get connected to different patient organisations that connect you to people with the same medical history. Support amongst peers helps the burden and stress of the daily challenges that come with disorders.
Find below some organisations we can recommend.
Be aware that these groups operate mainly in Dutch or French given their local nature, don’t hesitate to contact them nevertheless.
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