2. INTRODUCTION
The human red blood cells are flexible and round,
moving easily through your blood vessels.
In sickle cell anemia, the red blood cells become rigid
and sticky and are shaped like sickles or crescent
moons.
There’s no cure for most people with sickle cell
anemia. Treaments can relieve pain and prevent
further problems.
3. DEFINATION
Sickle cell anemia is an inherited form of anemia, a
condition in which there aren’t enough healthy red
blood to carry adequate oxygen throughout your body
Red blood cells in the case are rigid and sticky and are
shaped like sickles or crescent moons.
4. SYMPTOMS
Signs and symptoms of sickle cell anemia often don’t
appear until an infant is at least 4 months old and may
include:
Anemia: Shortage of red blood cells
Episodes of pain
Hand-foot syndrome: swollen hands and feet may be
the first signs in babies
Frequent infections: due to the damage of spleen
5. Cont.
Delayed growth
Vision problems: tiny blood vessels supplying your eye
may become plugged with sickle cells which can
damage the retina
Fever
Pale skin
Any signs or symptoms of stroke
6. Causes
Is caused by a mutation in the gene that tells your body
to make hemoglobin.
The sickle cell is passed from generation to generation in
a pattern of inheritance called autosomal recessive
inheritance.
8. NURE INTERVENTIONS
The nurse is likely to ask a number of questions such as:
When did you first notice these symptoms?
Have they been continuous or occasional?
Does anything seem to improve these symptoms?
What, if anything, appears to worsen the symptoms?
Does anyone in your family have sickle cell anemia?
Have you ever been told you have a trait for sickle cell
anemia?
9. TEST
A blood test can check for hemoglobin S – the
defective form of hemoglobin that underlies sickle cell
anemia
In adults , blood sample is drawn from a vein in the
arm. In young children and babies, the blood sample is
usually collected from a finger or heel. The sample is
then sent to a laboratory where it’s screened for
hemoglobin S.
Sickle cell disease can be diagnosed in an unborn baby
by sampling some of the fluid surrounding the baby in
the mother’s womb (amniotic fluid).
10. TREATMENT
Bone marrow transplant offers the only potential cure for
sickle cell anemia. But finding a donor is difficult and the
procedure involves serious risk including death.
MEDICATION
Medication used to treat sickle cell anemia include:
Antibiotics such as penicillin to help prevent infection
Pain-relieving medication to relieve pain during crisis
Hydroxyurea (Droxia, Hydrea) reduces frequency of painful
crises and need for blood transplant. It helps to stimulate
production of fetal hemoglobin but increase risk of
infection and may cause tumor or leukemia.
11. Cont.
Vaccinations to prevent infection
Assessing stroke risk using special ultrasound machine
(trans cranial)
Blood Transfusions- Deferasirox (Exjade) is an oral
medication that reduce excess iron levels
Supplemental Oxygen: it may be helpful if you have
acute chest syndrome or sickle cell crisis
Stem cell transplant (Bone Marrow)
Spleenectomy
12. LIFESTYLE
Take folic acid supplements daily, and choose a healthy
diet
Drink plenty of water
Avoid Temperature Extreme
Exercise regularly, but done overdo it
Use over-the-counter medications with caution
Plan ahead when traveling to high altitude areas
13. PREVENTION
If you carry the sickle cell trait, you may wish to see a
genetic counselor before trying to conceive a child. A
genetic counselor can help you understand your risk of
having a child with sickle cell anemia. He or she can
also explain possible treatments, preventive measures
and reproductive options.
14. THALASSEMIA
Thalassemia is an inherited blood disorder that causes
your body to have less hemoglobin than normal.
Hemoglobin enables red blood cells to carry oxygen.
Thalassemia can cause anemia, leaving you fatigued.
If you have mild thalassemia, you might not need
treatment. But more severe forms might require
regular blood transfusions. You can take steps to cope
with fatigue, such as choosing a healthy diet and
exercising regularly.
15. SIGNS AND SYMPTOMS
Fatigue
Weakness
Pale or yellowish skin
Facial bone deformities
Slow growth
Abdominal swelling
Dark urine
Some babies show signs and symptoms of thalassemia at
birth; others develop them during the first two years of life.
Some people who have only one affected hemoglobin gene
don't have thalassemia symptoms.
16. CAUSES
Thalassemia is caused by mutations in the DNA of
cells that make hemoglobin
Hemoglobin molecules are made of chains called
alpha and beta chains that can be affected by
mutations. In thalassemia, the production of either
the alpha or beta chains are reduced, resulting in
either alpha-thalassemia or beta-thalassemia.
17. TYPES OF THALASSEMIA
ALPHA &BETA
In alpha-thalassemia, the severity of thalassemia you
have depends on the number of gene mutations you
inherit from your parents. The more mutated genes,
the more severe your thalassemia.
In beta-thalassemia, the severity of thalassemia you
have depends on which part of the hemoglobin
molecule is affected.
18. ALPHA-THALASSEMIA
Four genes are involved in making the alpha
hemoglobin chain. You get two from each of your
parents. If you inherit:
One mutated gene, you'll have no signs or symptoms
of thalassemia. But you are a carrier of the disease and
can pass it on to your children.
Two mutated genes, your thalassemia signs and
symptoms will be mild. This condition might be called
alpha-thalassemia trait.
19. Three mutated genes, your signs and symptoms will be
moderate to severe.
Inheriting four mutated genes is rare and usually
results in stillbirth. Babies born with this condition
often die shortly after birth or require lifelong
transfusion therapy. In rare cases, a child born with
this condition can be treated with transfusions and a
stem cell transplant.
20. BETA-THALASSEMIA
Two genes are involved in making the beta
hemoglobin chain. You get one from each of your
parents. If you inherit:
One mutated gene, you'll have mild signs and
symptoms. This condition is called thalassemia minor
or beta-thalassemia.
Two mutated genes, your signs and symptoms will be
moderate to severe. This condition is called
thalassemia major, or Cooley anemia.
21. Babies born with two defective beta hemoglobin genes
usually are healthy at birth but develop signs and
symptoms within the first two years of life. A milder
form, called thalassemia intermedia, also can result
from two mutated genes.
23. PREVENTION
In most cases, you can't prevent thalassemia. If you
have thalassemia, or if you carry a thalassemia gene,
consider talking with a genetic counselor for guidance
if you want to have children.
24. GLUCOSE 6 PHOSPHATE
DEHYDROGENASE (G6PD)
DEFICIENCY
(G6PD) deficiency is a hereditary condition in which
red blood cells break down (hemolysis) when the body
is exposed to certain foods, drugs, infections or stress.
It occurs when a person is missing or has low levels of
the enzyme glucose-6-phosphate dehydrogenase. This
enzyme helps red blood cells work properly.
25. SYMPTOMS
People with G6PD deficiency generally do not have
symptoms unless their red blood cells are exposed to certain
chemicals in food or medicine, certain bacterial or viral
infections, or to stress. Some symptoms are:
Paleness
yellowing of the skin and whites of the eyes (jaundice)
dark urine
Fatigue
shortness of breath
enlarged spleen
rapid heart rate
26. Because G6PD deficiency is inherited in an X-linked
recessive manner, it is more common for males to have
symptoms. This is because males have only one copy of
the G6PD gene. If this one copy has a mutation, they
will definitely have G6PD deficiency.
However, while females have two copies of the G6PD
gene, some females are as severely affected as males.
This can be the case in females who have a mutation in
both copies of the G6PD gene, or even in females who
have only one mutation.
27. CAUSES
Glucose-6-phosphate dehydrogenase (G6PD)
deficiency is caused by mutations in the G6PD gene.
This gene gives the body instructions to make an
enzyme called G6PD, which is involved in processing
carbohydrates. This enzyme also protects red blood
cells from potentially harmful molecules called
reactive oxygen species. Chemical reactions involving
G6PD produce compounds that prevent reactive
oxygen species from building up to toxic levels within
red blood cells.
28. Mutations in the G6PD gene lower the amount of
G6PD or alter its structure, lessening its ability to play
its protective role. As a result, reactive oxygen species
can accumulate and damage red blood cells. Factors
such as infections, certain drugs, or eating fava beans
can increase the levels of reactive oxygen species,
causing red blood cells to be destroyed faster than the
body can replace them. This reduction of red blood
cells causes the signs and symptoms of hemolytic
anemia in people with G6PD deficiency.
29. DIAGNOSIS
Making a diagnosis for a genetic or rare disease can often
be challenging. Nurses typically look at:
a person’s medical history
Symptoms
physical exam
laboratory test results in order to make a diagnosis.
The following resources provide information relating to
diagnosis and testing for this condition.
30. TREATMENT
The most important aspect of management for G6PD
deficiency is to avoid agents that might trigger an
attack. In cases of acute hemolytic anemia, a blood
transfusion or even an exchange transfusion may be
required.
The G6PD Deficiency Association, which is an
advocacy group that provides information and
supportive resources to individuals and families
affected by G6PD deficiency, provides a list of drugs
and food ingredients that individuals with this
condition should avoid. They also maintain a list of
low risk drugs that are generally safe to take in low
doses.
