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

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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. 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


1
Thalessemia
2
Thalessemia
  • 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 can't 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.

3
There are two major types of thalassemia
  • Beta-thalassemia- Beta-thalassemia major
    (Cooley's disease) reduces the production of
    hemoglobin to much lower extent. It's 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 h disease, where there is
    moderately severe anemia occurs due to low
    production of alpha globin chains in hemoglobin.

4
Symptoms and causes of thalassemia
  • 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
    hemoglobin.

5
Symptoms and causes of thalassemia
Continue
  • 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 life long blood transfusion therapy. A
    child born can be treated with a blood
    transfusion and bone marrow transplant.

6
Risk factors of thalassemia
  • 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.
    People's from united states have less risk of
    getting thalassemia.

7
Complications of thalassemia
  • Certain complication can occur through long term
    severe thalassemias, which are
  • 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
    bones.
  • 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.

8
Treatment from moderate to severe thalassemia may
include
  • 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.

9
Diagnosis of thalassemia
  • Suspect of thalassemia in a child is confirmed by
    doing certain blood test. Blood test reveal
    certain condition, which are
  • 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

10
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

11
In case of pregnancy certain diagnosis can be
done, which are
  • Chorionic villus sampling. This test is usually
    done around the 11th week of pregnancy and
    involves removing a tiny piece of the placenta
    for evaluation.
  • Amniocentesis. This test is usually done around
    the 16th week of pregnancy and involves taking a
    sample of the fluid that surrounds the fetus.
  • Thalassemia may be a life threatening disease,
    but taking correct diagnosis in right time, can
    decrease the severity of this disease, and help a
    child to live a healthy life.

12
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