Thalassemia
Description
Thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. Individuals with thalassemia may experience fatigue, weakness, and pale skin due to the reduced oxygen-carrying capacity of their blood. This blog will delve into the complexities of thalassemia, exploring its causes, inheritance patterns, diagnosis, management, and how individuals can thrive despite the challenges it presents.
Genes Involved
Thalassemia is caused by mutations in genes responsible for producing hemoglobin. The most common genes involved include:
- Alpha-globin genes: Located on chromosome 16, these genes produce alpha-globin chains, one of the components of hemoglobin.
- Beta-globin genes: Located on chromosome 11, these genes produce beta-globin chains, the other component of hemoglobin.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of thalassemia is crucial for early diagnosis and management. Common symptoms include:
- Fatigue and weakness: Due to reduced oxygen levels in the blood, individuals with thalassemia often experience persistent fatigue and weakness.
- Pale skin: The lack of healthy red blood cells can cause the skin to appear pale.
- Yellowing of the skin and eyes (jaundice): This occurs when the body breaks down red blood cells faster than it can replace them.
- Enlarged spleen: The spleen works to filter old and damaged red blood cells. In thalassemia, the spleen may become enlarged as it struggles to keep up with the breakdown of abnormal red blood cells.
- Slow growth and development: In severe cases, thalassemia can affect growth and development in children.
- Bone deformities: Repeated blood transfusions can lead to iron overload, which can affect bone growth and cause deformities.
- Heart problems: Iron overload can also damage the heart.
Causes
Thalassemia is an inherited blood disorder. It occurs when mutations in the genes responsible for producing hemoglobin are passed down from parents to their children. Individuals inherit two copies of each gene, one from each parent. If one or both copies of the gene are mutated, it can lead to thalassemia. The severity of the disease depends on the number and type of gene mutations.
Inheritance/recurrence risk
Thalassemia follows an autosomal recessive inheritance pattern. This means that both parents must carry the mutated gene for their child to have thalassemia. If only one parent carries the mutated gene, their child will be a carrier but will not have the disease. However, they can pass the mutated gene on to their own children. The risk of having a child with thalassemia is higher if both parents are carriers.
