Thalessemia : Overview, Symptoms, complications, Risk factor, Causes, Daignosis and Treatment - PowerPoint PPT Presentation

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Thalessemia : Overview, Symptoms, complications, Risk factor, Causes, Daignosis and Treatment


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. The disorder results in excessive destruction of red blood cells, which leads to anemia. – PowerPoint PPT presentation

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Title: Thalessemia : Overview, Symptoms, complications, Risk factor, Causes, Daignosis and Treatment

What is Thalassemia?
  • Thalessemia is a genetic blood disorder, in which
    there are less hemoglobin and fewer red blood
    cells in the body. Hemoglobin carries oxygen in
    the blood low hemoglobin will cause lack of
    oxygen in different parts of the body. Organs
    will starve for oxygen and cant function
    properly. Low red blood cell count will cause
    anemia, which eventually leads to fatigue. In
    worldwide, there are around 350,000 births with
    severe thalassemia.

Types of Thalassemia
  • Beta-thalassemia- Beta-thalassemia major
    (Cooleys disease) reduces the production of
    hemoglobin to much lower extent. Its a very
    serious illness, as hemoglobin is major carrier
    of oxygen in different organs of body.
  • Alpha-thalassemia Two types of alpha-thalassemia
    are present, thalassamia major is a very severe
    anemia, where anemia occurs even before birth.
    The mother is itself at the risk of complex
    pregnancy. And another type of alpha thalassemia
    is hemoglobin disease, where there is moderately
    severe anemia occurs due to low production of
    alpha globin chains in hemoglobin.

  • Symptoms of thalassemia may include
  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine

  • Cause of Thalassemia is mainly due to the
    mutation of any of the 4 genes, or all of the
    four genes which are required to form hemoglobin.
    4 globulin chains are needed to make hemoglobin,
    imbalance in the globin chains, or inactive
    globin chain lead to low production of
  • Mutation in one of the 4 genes will not show any
    symptoms, the person will be a carrier and not a
    thalassemia major patient. Increase in mutation
    genes will lead to major thalassemia symptoms.
    Mutation in 4 genes is a rare case, and child
    born with that either die within some months or
    need a lifelong blood transfusion therapy. A
    child born can be treated with a blood
    transfusion and bone marrow transplant.

Risk factors
  • Family history of thalassemia Thalassemia is
    passed from parents to children through mutated
    hemoglobin genes. If you have a family history of
    thalassemia, you may have an increased risk of
    the condition.
  • Certain ancestry Thalassemia occurs most often
    in African-Americans and in people of
    Mediterranean and Southeast Asian ancestry.
    Peoples from united states have less risk of
    getting thalassemia.

  • Bone deformities Thalassemia can result in
    abnormal bone structure, especially in the face
    and skull. Bone marrow expansion also makes bones
    thin and brittle, increasing the chance of broken
  • Enlarged spleen (splenomegaly) Thalassemia is
    often accompanied by the destruction of a large
    number of red blood cells. This causes the spleen
    to enlarge and work harder than normal.
    Splenomegaly can make anemia worse, and it can
    reduce the life of transfused red blood cells.
  • Slowed growth rates. Anemia can cause a child's
    growth to slow. And thalassemia may cause a delay
    in puberty.
  • Heart problems. Heart problems such as
    congestive heart failure and abnormal heart
    rhythms (arrhythmias) may be associated with
    severe thalassemia.

  • A low level of red blood cells
  • Smaller than expected red blood cells
  • Pale red blood cells
  • Red blood cells that are varied in size and shape
  • Red blood cells with uneven hemoglobin
    distribution, which gives the cells a bull's-eye
    appearance under the microscope
  • Blood tests may also be used to
  • Measure the amount of iron in your child's blood
  • Evaluate his or her hemoglobin
  • Perform DNA analysis to diagnose thalassemia or
    to determine if a person is carrying mutated
    hemoglobin genes

  • Medications Certain medications can decrease the
    symptoms and help in the red blood cell count,
    but medication can only be limited to mild to
    moderate thalassemia.
  • Frequent blood transfusions. More-severe forms of
    thalassemia often require frequent blood
    transfusions, possibly every few weeks.
  • Over time, blood transfusions cause a buildup of
    iron in the blood, which can damage heart, liver
    and other organs. To help the body get rid of the
    extra iron, take medications should be taken
    which may remove extra iron.
  • Stem cell transplant. Also called a bone marrow
    transplant, a stem cell transplant may be an
    option in select cases, including children born
    with severe thalassemia. It can eliminate the
    need for lifelong blood transfusions and drugs to
    control iron overload.

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