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Overview
 Sickle cell anemia is one of a group of inherited
disorders known as sickle cell disease. It affects the
shape of red blood cells, which carry oxygen to all
parts of the body.
 Red blood cells are usually round and flexible, so
they move easily through blood vessels.
 In sickle cell anemia, some red blood cells are
shaped like sickles or crescent moons.
 These sickle cells also become rigid and sticky,
which can slow or block blood flow.
Signs and symptoms of sickle cell anemia usually
appear around 6 months of age. They vary from person
to person and may change overtime. Signs and
symptoms can include:
Anemia: Sickle cells break apart easily and die. Red
blood cells usually live for about 120 days before they
need to be replaced. But sickle cells typically die in 10
to 20 days, leaving a shortage of red blood cells
(anemia).
Episodes of pain: Periodic episodes of extreme pain,
called pain crises, are a major symptom of sickle cell
anemia. Pain develops when sickle-shaped red blood
cells block blood flow through tiny blood vessels to your
chest, abdomen and joints.
Swelling of hands and feet: The swelling is caused by
sickle-shaped red blood cells blocking blood circulation in
the hands and feet.
Frequent infections. Sickle cells can damage the spleen,
increasing vulnerability to infections. Infants and children
with sickle cell anemia commonly receive vaccinations
and antibiotics to prevent potentially life-threatening
infections, such as pneumonia.
Seek emergency care
for symptoms of stroke,
which include:
One-sided paralysis
or weakness in the
face, arms or legs.
Confusion.
Difficulty walking
or talking.
Sudden
vision
changes.
Sickle cell anemia is caused by a change in the
gene that tells the body to make the iron-rich
compound in red blood cells called hemoglobin.
Hemoglobin enables red blood cells to carry oxygen
from the lungs throughout the body. The
hemoglobin associated with sickle cell anemia
causes red blood cells to become rigid, sticky and
misshapen.
For a child to be affected, both mother and father
must carry one copy of the sickle cell gene — also
known as sickle cell trait — and pass both copies of
the altered form to the child.
For a baby to be born with sickle cell
anemia, both parents must carry a sickle
cell gene.
In the United States, sickle cell anemia
most commonly affects people of African,
Mediterranean and Middle Eastern
descent.
 Stroke: Sickle cells can block blood flow to an
area of the brain. Signs of stroke include
seizures, weakness or numbness of the arms
and legs, sudden speech difficulties, and loss of
consciousness.
 Acute chest syndrome: A lung infection or
sickle cells blocking blood vessels in the lungs
can cause this life-threatening complication,
resulting in chest pain, fever and difficulty
breathing.
Pulmonary hypertension :People with sickle
cell anemia can develop high blood pressure in
their lungs. This complication usually affects
SCD is diagnosed with a simple blood test. In children
born in the United States, it most often is found at birth
during routine newborn screening tests at the hospital. In
addition, SCD can be diagnosed while the baby is in the
womb.
Diagnostic tests before the baby is born, such as
chorionic villus sampling and amniocentesis, can check
for chromosomal or genetic abnormalities in the baby.
Chorionic villus sampling tests a tiny piece of the
placenta, called chorionic villus. Amniocentesis tests a
small sample of amniotic fluid surrounding the baby.
 If you carry the sickle cell trait, seeing a
genetic counselor before trying to conceive
can help you understand your risk of
having a child with sickle cell anemia.
 A genetic counselor can also explain
possible treatments, preventive measures
and reproductive options.
The only cure for SCD is bone marrow or
stem cell transplantation.
 Because these transplants are risky and
can have serious side effects, they are
usually only used in children with severe
SCD.
For the transplant to work, the bone
marrow must be a close match.
 Usually, the best donor is a brother or
sister.
People who have sickle cell trait (SCT) inherit a
hemoglobin “S” gene from one parent and a normal gene
(one that codes for hemoglobin “A”) from the other parent.
People with SCT usually do not have any of the signs of
the disease. However, in rare cases, a person with SCT
may develop health problems; this occurs most often
when there are other stresses on the body, such as when
a person becomes dehydrated or exercises strenuously.
Additionally, people who have SCT can pass the
abnormal hemoglobin “S” gene on to their children.

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SICKLE CELL ANEMIA PPTX.pptx

  • 1. Overview  Sickle cell anemia is one of a group of inherited disorders known as sickle cell disease. It affects the shape of red blood cells, which carry oxygen to all parts of the body.  Red blood cells are usually round and flexible, so they move easily through blood vessels.  In sickle cell anemia, some red blood cells are shaped like sickles or crescent moons.  These sickle cells also become rigid and sticky, which can slow or block blood flow.
  • 2. Signs and symptoms of sickle cell anemia usually appear around 6 months of age. They vary from person to person and may change overtime. Signs and symptoms can include: Anemia: Sickle cells break apart easily and die. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells typically die in 10 to 20 days, leaving a shortage of red blood cells (anemia). Episodes of pain: Periodic episodes of extreme pain, called pain crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. Swelling of hands and feet: The swelling is caused by sickle-shaped red blood cells blocking blood circulation in the hands and feet. Frequent infections. Sickle cells can damage the spleen, increasing vulnerability to infections. Infants and children with sickle cell anemia commonly receive vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
  • 3. Seek emergency care for symptoms of stroke, which include: One-sided paralysis or weakness in the face, arms or legs. Confusion. Difficulty walking or talking. Sudden vision changes.
  • 4. Sickle cell anemia is caused by a change in the gene that tells the body to make the iron-rich compound in red blood cells called hemoglobin. Hemoglobin enables red blood cells to carry oxygen from the lungs throughout the body. The hemoglobin associated with sickle cell anemia causes red blood cells to become rigid, sticky and misshapen. For a child to be affected, both mother and father must carry one copy of the sickle cell gene — also known as sickle cell trait — and pass both copies of the altered form to the child.
  • 5. For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene. In the United States, sickle cell anemia most commonly affects people of African, Mediterranean and Middle Eastern descent.
  • 6.  Stroke: Sickle cells can block blood flow to an area of the brain. Signs of stroke include seizures, weakness or numbness of the arms and legs, sudden speech difficulties, and loss of consciousness.  Acute chest syndrome: A lung infection or sickle cells blocking blood vessels in the lungs can cause this life-threatening complication, resulting in chest pain, fever and difficulty breathing. Pulmonary hypertension :People with sickle cell anemia can develop high blood pressure in their lungs. This complication usually affects
  • 7. SCD is diagnosed with a simple blood test. In children born in the United States, it most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed while the baby is in the womb. Diagnostic tests before the baby is born, such as chorionic villus sampling and amniocentesis, can check for chromosomal or genetic abnormalities in the baby. Chorionic villus sampling tests a tiny piece of the placenta, called chorionic villus. Amniocentesis tests a small sample of amniotic fluid surrounding the baby.
  • 8.  If you carry the sickle cell trait, seeing a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anemia.  A genetic counselor can also explain possible treatments, preventive measures and reproductive options.
  • 9. The only cure for SCD is bone marrow or stem cell transplantation.  Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match.  Usually, the best donor is a brother or sister.
  • 10. People who have sickle cell trait (SCT) inherit a hemoglobin “S” gene from one parent and a normal gene (one that codes for hemoglobin “A”) from the other parent. People with SCT usually do not have any of the signs of the disease. However, in rare cases, a person with SCT may develop health problems; this occurs most often when there are other stresses on the body, such as when a person becomes dehydrated or exercises strenuously. Additionally, people who have SCT can pass the abnormal hemoglobin “S” gene on to their children.