Genetic Disorder Insight: Beta-thalassemia, its genetic alterations, and associated symptoms explained
Beta-thalassemia is a hereditary blood disorder caused by a mutation in the HBB gene, which plays a crucial role in the production of haemoglobin, a protein that carries oxygen and iron throughout the body. The condition has an autosomal recessive pattern of inheritance, meaning a person needs to inherit two genes with the beta-thalassemia mutation to develop the disorder.
This chronic illness requires ongoing monitoring and care, as it can cause a range of symptoms, from mild to severe. Beta-thalassemia minor, the least severe form, often causes few or no symptoms, while beta-thalassemia major, the most severe form, known as Cooley's anemia, causes severe anemia and, without treatment, organ damage. Beta-thalassemia intermedia and dominant beta thalassemia fall between these extremes.
Diagnosing beta-thalassemia involves a series of tests, including taking blood from a vein, performing a complete blood count, peripheral blood smear, iron studies, erythrocyte porphyrin levels, hemoglobin electrophoresis, and a DNA test.
The main treatment options for beta-thalassemia balance life-sustaining transfusions and chelation with their risks. Regular blood transfusions are essential for severe forms, especially Transfusion-Dependent Thalassemia (TDT), to maintain adequate hemoglobin levels. However, they can lead to iron overload, which may result in heart dysfunction, liver dysfunction, testicular dysfunction, early-onset Parkinson's disease, hypothyroidism, hyperparathyroidism, and other complications.
To manage the iron overload, iron chelation therapy is used. This therapy helps remove excess iron, preventing organ damage. However, long-term use can have side effects such as renal impairment or gastrointestinal issues, depending on the chelating agent used.
Folic acid supplements support red blood cell production and help compensate for anemia. Hematopoietic Stem Cell Transplantation (HSCT) or Bone Marrow Transplant, currently the only potentially curative option, especially with a compatible sibling donor, offers hope for long-term resolution but carries substantial risks and access limitations.
Emerging gene therapies, such as CRISPR-based gene editing, aim to correct the genetic defect, potentially freeing patients from lifelong transfusions and preventing complications.
In addition to these treatments, individuals with beta-thalassemia may face other complications, such as an increased risk of dangerous blood clots, bone deformities and osteoporosis, cardiovascular complications beyond iron overload, mental health issues due to the chronic disease burden, chronic leg ulcers, and hepatobiliary diseases like cholelithiasis.
Despite these challenges, with the right treatment and care, an individual with beta-thalassemia can live a long life. A doctor may order amniotic fluid testing if there is evidence that a fetus may have the condition. Treating beta-thalassemia requires ongoing tests of the individual's organs and organ systems to monitor for complications and adjust treatment as needed.
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