Title: Thalessemia : Overview, Symptoms, complications, Risk factor, Causes, Daignosis and Treatment
1Thalessemia
2Thalessemia
- 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.
3There 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.
4Symptoms 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.
5Symptoms 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.
6Risk 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.
7Complications 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.
8Treatment 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.
9Diagnosis 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
10Blood 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
11In 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.
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