Thalassemia Disorder
Written By Gourav Goyal Tagged As General

Thalassemia Disorder

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Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. Thalassemia caused by either a genetic mutation or a deletion of certain key gene fragments.

If both of parents are carriers of thalassemia, anyone have a greater chance of inheriting a more serious form of the disease.

If only one parents is a carrier for thalassemia, anyone may develop a form of the disease known as thalassemia minor. If this occurs, anyone probably won't have symptoms, but anyone will be a carrier of the disease. Some people with thalassemia minor do develop minorsymptoms.

There are major types of thalassemia which are

Alpha thalassemia

Alpha thalassemia occurs when the body can't make alpha globin. In order to make alpha globin, you need to have four genes, two from each parent.

This type of thalassemia also has two serious types: haemoglobin H disease and hydrops fatalism.

    Haemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these genes. This disease can lead to bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally, haemoglobin H disease can cause:
  • Jaundice
  • An extremely enlarged spleen
  • Malnourishment
  • Beta thalassemia
  • Beta thalassemia occurs when body can't produce beta globin. Two genes, one from each parent, are inherited to make beta globin. This type of thalassemia comes in two serious subtypes: thalassemia major (Cooley's anemia) and thalassemia intermedia.
    Thalassemia major is the most severe form of beta thalassemia. It develops when beta globin genes are missing. The symptoms of thalassemia major generally appear before a child's second birthday. The severe anaemia related to this condition can be life-threatening. Other signs and symptoms include:
  • Fussiness
  • Paleness
  • Frequent infections
  • A poor appetite
  • Failure to thrive
  • Jaundice, which is a yellowing of the skin or the whites of the eyes
  • Enlarged organs
  • This form of thalassemia is usually so severe that it requires regular blood transfusions.
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      Thalassemia minor

      People with thalassemia minor don't usually have any symptoms. If they do, it's likely to be minor anaemia. The condition is classified as either alpha or beta thalassemia minor. In alpha minor cases, two genes are missing. In beta minor, one gene is missing.

      The lack of visible symptoms can make thalassemia minor difficult to detect. It's important to get tested if one of your parents or a relative has some form of the disease.

      Thalassemia disorder results in excessive destruction of red blood cells, which leads to anaemia. Anaemia is a condition in which your body doesn't have enough normal, healthy red blood cells.

      Thalassemia minor is a less serious form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.

        There are symptoms of thalassemia-
      • Bone deformities, especially in the face
      • Dark urine
      • Delayed growth and development
      • Excessive tiredness and fatigue
      • Yellow or pale skin
      • Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.
      • What are the different types of thalassemia?
        There are three main types of thalassemia (and four subtypes):
      • Beta thalassemia, which includes the subtypes major and intermedia
      • Alpha thalassemia, which include the subtypes haemoglobin H and hydrops fatalism
      • Thalassemia minor

      All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.

        Some of the treatments of Thalassemia are -
      • Blood transfusions
      • Bone marrow transplant
      • Medications and supplements
      • Possible surgery to remove the spleen or gallbladder
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      If anyone is receiving a blood transfusion, he /she may also need chelation therapy. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.

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