Thalassemia is a rare inherited blood disorder that affects how hemoglobin is produced. Hemoglobin is the protein in red blood cells responsible for carrying oxygen throughout your body. If certain gene mutations are passed from parents to their children, these mutations can hinder the body from producing the correct amount of hemoglobin. As a result, people with thalassemia often experience anemia, a common blood disorder where the body doesn’t have enough healthy red blood cells to carry oxygen.
Anemia can vary in severity, from mild symptoms like fatigue, shortness of breath, muscle cramps, and pale skin, to severe cases that lead to organ damage, brittle bones, or a weakened immune system. Thalassemia requires more intensive treatment than typical anemia, often involving blood transfusions or bone marrow transplants to boost red blood cell production.
Hemoglobin consists of two protein chains: alpha globin and beta globin, and thalassemia types are categorized based on which chain isn’t produced correctly. This categorization helps healthcare providers assess the condition’s severity and decide on suitable treatments. Alpha thalassemia results from mutations in the HBA1 and HBA2 genes, and you inherit two alpha globin genes from each parent. Depending on how many genes are missing, the severity varies.
Beta thalassemia is caused by mutations in the HBB gene responsible for beta globin protein production. You inherit one beta globin gene from each parent, leading to different subtypes of beta thalassemia.
Symptoms of thalassemia differ based on the type and severity. Children with certain types of thalassemia, like hemoglobin H disease or major forms of the condition, typically show signs within the first two years of life, with symptoms such as enlarged spleen or slowed growth.
Thalassemia is passed down genetically in an autosomal recessive pattern. Both parents must carry the gene mutation for a child to possibly develop thalassemia. A single mutated gene from one parent makes you a carrier without developing symptoms. Family history greatly influences your chances of having the disorder, which is more prevalent in individuals from certain ancestral backgrounds.
Diagnosing thalassemia involves a comprehensive medical history review, physical examination, and checking for family occurrences. Blood and genetic tests are commonly used for diagnosis, and prenatal testing is available if there’s a family history of thalassemia.
Treatment depends on the disorder’s severity. Mild cases might not require much intervention, while severe ones often need regular blood transfusions. Such transfusions help increase red blood cell count, ensuring your body receives enough oxygen to reduce symptoms of anemia. The frequency of transfusions varies, based on the type of thalassemia, with some cases requiring them every few weeks.
A downside to frequent transfusions is the risk of iron overload, which needs to be managed with iron chelation therapy. A bone marrow transplant offers a potential cure, but finding a matching donor is rare. This procedure involves replacing unhealthy blood cells with healthy ones from a donor, which can significantly improve red blood cell production.
Since thalassemia is genetic, it isn’t preventable, but genetic testing can determine if you’re a carrier, especially if you’re from a high-risk ancestry. Working with a genetic counselor can help assess the risks for your children if you and your partner carry the genes.
Living with thalassemia means ongoing management, but following your treatment plan and making healthy lifestyle choices can help maintain a good quality of life. Recent medical advances have greatly improved prospects for individuals with thalassemia, allowing many to have a normal lifespan. Regular consultations with your healthcare provider are vital to managing the condition effectively.
Thalassemia management can be demanding, particularly with frequent transfusions. Support from family and friends is invaluable, whether it’s accompanying you to appointments or reminding you to rest. If managing the disorder becomes challenging, discussing options with your healthcare provider can provide additional support and resources to enhance your well-being.
