Thalassaemia is an inherited blood disorder that affects the production of hemoglobin, a protein in the red blood cells that carries oxygen throughout the body. It can range from a mild condition that does not require treatment to a severe and life-threatening disease.
India is listed as the "Thalassaemia Capital" of the world.
Symptoms may include fatigue, weakness, shortness of breath, pale skin, and an enlarged spleen.
Types of Thalassaemia:
There are two main types of thalassaemia: Alpha and Beta thalassaemia.
Alpha thalassaemia occurs when there is a mutation or deletion in one or more of the four alpha globin genes that are required to make alpha globin protein chains.
Depending on the number of genes affected, alpha thalassaemia can be classified as:
Silent carrier: A person has one mutated gene and usually does not have any symptoms.
Alpha thalassemia trait: A person has two mutated genes and may have mild anemia, but typically does not require treatment.
Hemoglobin H disease: A person has three mutated genes and may have moderate to severe anemia, enlarged spleen, and other symptoms.
Hydrops fetalis: A life-threatening condition that affects fetuses and newborns, caused by having no functional alpha globin chains. This condition is usually fatal shortly after birth.
Beta thalassemia minor: This is the mildest form of beta thalassemia, in which a person inherits one mutated copy of the HBB gene and one normal copy. People with beta thalassemia minor have mild anemia that often goes unnoticed, and they usually do not require regular blood transfusions.
Beta thalassemia intermedia: This is a moderate form of beta-thalassemia. People with beta-thalassemia intermedia may have more severe anemia, requiring occasional blood transfusions, and may experience other symptoms such as bone deformities and enlarged spleen.
Beta thalassemia major (also known as Cooley's anemia): This is the most severe form of beta-thalassemia. People with beta-thalassemia major require lifelong regular blood transfusions, along with iron chelation therapy to prevent iron overload, and other treatments to manage their symptoms and prevent complications such as heart and liver damage.
Beta thalassaemia occurs when there is a mutation in the HBB gene, which provides instructions for making the beta globin protein chains.
Depending on the number of genes affected, Beta thalassaemia can be classified as:
Symptoms of Thalassaemia:
The symptoms of thalassemia can vary depending on the type and severity of the condition.
Fatigue and weakness: Thalassemia can cause anemia. This can cause fatigue, weakness, and a feeling of being tired all the time.
Pale skin and jaundice: People with thalassemia may have pale skin and a yellowish tint to their skin and eyes (jaundice) due to the breakdown of red blood cells.
Shortness of breath and chest pain: Thalassemia can cause the heart to work harder to pump oxygen-rich blood throughout the body, leading to shortness of breath and chest pain.
Delayed growth and development: Children with thalassemia may have delayed growth and development due to the lack of oxygen and nutrients in their body's tissues.
Enlarged spleen and liver: Thalassemia can cause the spleen and liver to become enlarged, which can lead to abdominal pain and discomfort.
Bone deformities: People with thalassemia may develop bone deformities, particularly in the face and skull, due to the expansion of the bone marrow.
Diagnosis of Thalassaemia:
The diagnosis of thalassemia typically involves several steps, including:
Medical history and physical exam: This includes the detailed family and past history of the patient and a physical exam to check for signs of anemia, jaundice, enlarged organs, and bone deformities.
Blood tests: A complete blood count (CBC) can help determine the number and size of red blood cells, while a hemoglobin electrophoresis test can identify the specific type of thalassemia present.
Genetic testing: Genetic testing can confirm the diagnosis of thalassemia and determine the specific mutations in the HBA1, HBA2, and HBB genes.
Prenatal testing: If there is a family history of thalassemia or if both parents are carriers, prenatal testing may be recommended to check for thalassemia in the developing fetus.
Treatment of Thalassaemia:
Blood transfusion is the most common treatment required by patients with Thalassemia
Minor forms of Thalassemia do not require any treatment.
Severe forms of the disease want frequent transfusions of red blood cells.
In certain cases, a bone marrow or stem cell transplant may be an option for people with severe thalassemia
The primary benefit of Homeopathy treatment of Thalassemia is "It can reduce repeated blood transfusions" and hospital visits.
Homeopathy medicines also help to improve immune status, which in turn controls frequent attacks of infections.