Thalassemia(Abnormal Hb)
Thalassemia(Abnormal Hb) is a group of inherited blood disorders characterized by abnormal hemoglobin production, leading to reduced red blood cell production and anemia. It is a genetic disorder that affects the synthesis of hemoglobin, the oxygen-carrying protein in red blood cells. It is characterized by the reduced production or malfunctioning of either alpha or beta globin chains, which are essential components of hemoglobin.
Symptoms –
Common symptoms of thalassemia may include:
• Fatigue and weakness
• Pale or yellowish skin
• Shortness of breath
• Delayed growth and development in children
• Enlarged spleen or liver
• Bone deformities in severe cases
Causes –
Thalassemia(Abnormal Hb)is caused by mutations in the genes responsible for producing hemoglobin. These mutations disrupt the normal production of globin chains, resulting in an imbalance of alpha or beta chains. The specific genes affected determine the type of thalassemia a person has.
Types –
There are two main types of thalassemia –
• Alpha thalassemia:
This type occurs when there are defects or deletions in the alpha globin genes. It is further classified into four subtypes based on the number of affected genes.
• Beta thalassemia:
This type results from mutations in the beta globin genes. It is classified into two subtypes: thalassemia major (Cooley’s anemia) and thalassemia minor.
Risk Factors –
Certain factors increase the risk of developing thalassemia:
• Family history: Thalassemia is an inherited disorder, so having a family history of the condition increases the risk.
• Ethnicity: Thalassemia is more prevalent in individuals of Mediterranean, Middle Eastern, Southeast Asian, and African descent.
• Consanguineous marriages: Marriages between close relatives increase the risk of inheriting thalassemia.
Diagnosis –
Thalassemia can be diagnosed through various tests, including:
• Complete blood count (CBC): It measures the levels of red blood cells, hemoglobin, and other blood components.
• Hemoglobin electrophoresis: This test determines the types and amounts of hemoglobin present in the blood, helping identify specific thalassemia mutations.
• Genetic testing: It can detect specific gene mutations associated with thalassemia.
Treatment –
The treatment of thalassemia aims to manage symptoms and improve quality of life. Options include –
• Blood transfusions: Regular transfusions provide healthy red blood cells to compensate for the abnormal ones.
• Chelation therapy: It helps remove excess iron from the body, which accumulates due to frequent blood transfusions.
• Stem cell transplant: This procedure replaces damaged bone marrow cells with healthy ones, potentially offering a cure for some individuals.
• Genetic counseling: It helps individuals and families understand the genetic implications of thalassemia and make informed decisions.
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