What is thalassemia?

    Thalassemia is a hereditary blood disorder characterized by insufficient production of hemoglobin, a crucial protein within red blood cells. Hemoglobin enables red blood cells to carry oxygen throughout the body. When hemoglobin levels are low, red blood cells fail to function effectively and have shorter lifespans, resulting in fewer healthy red blood cells circulating in the bloodstream.

    The role of red blood cells in delivering oxygen to body cells is vital for cellular function. Insufficient healthy red blood cells mean inadequate oxygen supply to tissues, leading to fatigue, weakness, and shortness of breath. This condition, known as anemia, can manifest as mild or severe. Severe anemia poses a risk of organ damage and can be life-threatening.

What are the different types of thalassemia?

    Thalassemia is categorized into a trait, minor, intermedia, and significant classifications to indicate the severity of the condition. These classifications span a spectrum, where individuals with thalassemia trait may experience mild anemia symptoms or remain asymptomatic, often not requiring treatment. Conversely, thalassemia major is the most severe form, typically requiring regular treatment.

    Thalassemia encompasses two primary types: alpha thalassemia and beta thalassemia,

    which are named based on the defects occurring in these specific hemoglobin chains.

    1. Alpha thalassemia.

    You inherit four genes, two from each parent, responsible for producing alpha globin protein chains. When one or more of these genes are flawed, alpha thalassemia develops. The severity of anemia symptoms, if present, is determined by the number of defective genes inherited.

  • One defective or absent alpha gene typically doesn't result in symptoms, also known as alpha thalassemia minima.
  • Two defective or absent alpha genes may lead to mild symptoms if experienced, termed alpha thalassemia minor.
  • Three defective or absent alpha genes often result in moderate to severe symptoms, known as Hemoglobin H disease.
  • Four defective or absent alpha genes typically lead to death. Rare survivors, if any, usually require lifelong blood transfusions and are diagnosed with hydrops fetalis with
  • Hemoglobin Barts

    2. Beta thalassemia

    You inherit two beta-globin genes, one from each parent, which determine the severity of your anemia symptoms based on the number and location of defective genes within the beta-globin protein chain.

  • One defective or absent beta gene typically results in mild symptoms, also called beta thalassemia minor.
  • Two defective or absent beta genes lead to moderate to severe symptoms. The moderate form is termed thalassemia intermedia, while the more severe variant, involving two gene mutations, is known as beta thalassemia major or Cooley’s anemia.

    Being carriers of the same type of thalassemia, if two individuals have children, their offspring face the following probabilities:

  • 25% risk of developing thalassemia major by inheriting the thalassemia gene from both parents.
  • 25% chance of not inheriting the thalassemia gene at all.
  • 50% likelihood of inheriting the gene from one parent, resulting in carrier status.

What are the causes of thalassemia?

    Thalassemia arises from an abnormality or mutation in one of the genes responsible for hemoglobin production inherited from parents.

    If one parent is a thalassemia carrier, you may develop thalassemia minor. Symptoms are usually absent, but you will be a carrier. Some individuals with thalassemia minor may experience mild symptoms.

    In cases where both parents are carriers, the likelihood of inheriting a more severe form of the disease increases.

What are the risk factors of thalassemia?

    Risk factors for thalassemia include:

    1. Family history: Thalassemia is inherited from parents who carry mutated hemoglobin genes.

    2. Ancestry: Thalassemia is more prevalent among individuals of African American descent and those with Mediterranean and Southeast Asian backgrounds.

What are the symptoms of thalassemia?

    Your experience with thalassemia will vary depending on its type and severity.

    1. Asymptomatic (no symptoms):

    If you are missing one alpha gene, you may not exhibit any symptoms. Having two missing alpha genes or one missing beta gene may also result in no symptoms, or you may experience mild signs of anemia such as fatigue.

    2. Mild to moderate symptoms:

    Beta thalassemia intermedia may present with mild anemia symptoms or the following moderate symptoms:

  • Growth delays
  • Delayed puberty
  • Bone abnormalities like osteoporosis
  • Enlarged spleen

    Surgical intervention may be necessary to address skeletal issues, while splenectomy may be required if the spleen becomes excessively enlarged.

    3. Severe symptoms:

    Lacking three alpha genes (Hemoglobin H disease) often leads to severe and lifelong anemia symptoms present from birth. Beta thalassemia major (Cooley’s anemia) typically manifests with severe anemia symptoms noticeable by age 2.

    Symptoms of severe anemia may include those seen in mild to moderate cases along with:

  • Loss of appetite
  • Pale or jaundiced skin
  • Dark or tea-coloured urine
  • Facial bone deformities

How is thalassemia diagnosed?

    If your doctor suspects thalassemia, they will likely conduct a blood test to aid in diagnosis. This involves sending a blood sample to a laboratory for analysis to detect signs of anemia and abnormal hemoglobin. Additionally, a lab technician will examine the blood under a microscope to assess the shape of the red blood cells.

    Abnormal red blood cell shapes are indicative of thalassemia. The technician may also conduct a hemoglobin electrophoresis test, which separates the various molecules within red blood cells, enabling the identification of abnormal types.

    In some instances, the type and severity of thalassemia may be inferred through a physical examination by your doctor. For instance, if a spleen is significantly enlarged, it could suggest the presence of hemoglobin H disease.

What is the treatment of thalassemia?

    At Apex Hospitals we provide the following standard treatments for thalassemia:

    1. Blood transfusions: This involves receiving injections of red blood cells intravenously to replenish healthy red blood cell and hemoglobin levels. For moderate or severe cases, transfusions are typically administered every four months. In beta thalassemia major, they may be needed every two to four weeks. Occasional transfusions may be necessary for conditions like hemoglobin H disease or beta thalassemia intermedia, especially during infection.

    2. Iron chelation therapy: Excessive iron accumulation is a risk associated with frequent blood transfusions. Iron chelation therapy helps remove excess iron from the body, which can otherwise lead to organ damage. This therapy is often administered orally as a pill.

    3. Folic acid supplements: These supplements aid in producing healthy blood cells.

    4. Bone marrow and stem cell transplant: This procedure, conducted from a compatible related donor, is the only curative treatment for thalassemia. Compatibility is determined based on matching human leukocyte antigens (HLA). During the transplant, bone marrow stem cells from the donor are injected into the recipient's bloodstream, generating new, healthy blood cells within a month.

When to see the doctor:

    Schedule an appointment with your child's healthcare provider for an assessment if they exhibit any signs or symptoms of thalassemia.

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