World Thalassemia Day 2023: Expert On Alpha Thalassemia; What Lifestyle Changes Should One Adopt?

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Alpha thalassemia is a genetic blood disorder characterized by reduced or absent production of alpha-globin chains, which are components of haemoglobin, the protein in red blood cells that carries oxygen throughout the body.

Alpha thalassemia is caused by mutations in the HBA1 and HBA2 genes, which provide instructions for making alpha-globin chains. There are several types of alpha thalassemia, which are classified based on the number of affected alpha-globin genes. The severity of the condition varies depending on the number of affected genes.

The mildest form of alpha thalassemia, called alpha thalassemia minor or alpha thalassemia trait, occurs when only one or two alpha-globin genes are affected. People with this form of the condition usually have no or only mild symptoms, such as mild anaemia (low red blood cell count) and small red blood cells.

Medically speaking, the condition is caused by the disruption of one or more of the four resident homologous haemoglobin alpha genes, α1α2//α1α2 clustered in chromosome 16p.

In more severe forms of alpha thalassemia, three or four alpha-globin genes may be affected. This can result in significant anemia and other complications, such as enlarged spleen, jaundice, and bone problems. These categories of alpha thalassemia disease are Hemoglobin H (HbH) disease and α-thalassemia major. α-Thalassaemia major is a severe genetic disorder in which all four of the α alleles are defunct and the crisis is incompatible with life from the moment of birth.

Alpha thalassemia is most commonly found in people of Asian, Middle Eastern, and African descent. The condition is diagnosed through blood tests, genetic testing, and other diagnostic procedures, and treatment may include blood transfusions, iron chelation therapy, and other supportive measures.

Sickle cell disease is another genetic blood disorder that affects hemoglobin in red blood cells, but it is caused by a different mutation than alpha thalassemia. In sickle cell disease, a mutation in the HBB gene causes the production of abnormal hemoglobin molecules that can cause red blood cells to become rigid and form a crescent or sickle shape. This can block blood vessels, leading to pain, organ damage, and increased risk of infections. Treatment may include medications, blood transfusions, and bone marrow transplants.

Blood cancers, also known as hematologic cancers, are a type of cancer that originates in the bone marrow or lymphatic system, affecting the production and function of blood cells. Unlike alpha thalassemia and sickle cell disease, which are inherited genetic disorders that primarily affect red blood cells, blood cancer can affect all types of blood cells, including white blood cells and platelets, and can include various types of leukemia, lymphoma, and myeloma.

Diagnosing alpha thalassemia typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. A medical history and physical exam can reveal symptoms such as anemia, enlarged spleen, or jaundice. Blood tests can be done to evaluate the levels of hemoglobin, red blood cells, and other blood components. Genetic testing can confirm the diagnosis and determine the specific type of alpha thalassemia.

This can involve analyzing DNA samples from the patient and their family members to identify mutations in the HBA1 and HBA2 genes. In some cases, prenatal testing may be done to diagnose alpha thalassemia in a developing fetus.

Disclaimer: The information provided in this article is for general informational and educational purposes only and is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or a qualified healthcare provider with any questions you may have regarding a medical condition.