hereditary spherocytosis

1. Presented By:
Group 1
Kamal Khan, Abdul Moiz, Navisht
Anjum, Dawood Bukhari

2. Introduction of Hereditary Spherocytosis
 Hereditary spherocytosis (HS) is a disorder of the surface, called the membrane,
of your red blood cells. It causes your red blood cells to be shaped like spheres
instead of flattened discs that curve inward. The spherical cells are less flexible
than normal red blood cells.
 In a healthy body, the spleen starts the immune system’s response to infections.
The spleen filters bacteria and damaged cells out of the blood stream. However,
spherocytosis makes it difficult for red blood cells to pass through your spleen
due to the cells’ shape and stiffness.
 The irregular shape of the red blood cells can cause the spleen to break them
down faster. This breakdown process is called hemolytic anemia. A normal red
blood cell can live for up to 120 days, but red blood cell with hereditary
spherocytosis might live for as few as 10 to 30 days.

4. Causes of Hereditary spherocytosis
Hereditary spherocytosis is caused by a genetic defect. If you have a family history of this
disorder, your chances of developing it are higher than someone who does not. People of any
race can have hereditary spherocytosis, but it’s most common in people of Northern European
descent.
HS is caused by changes (mutations) in five different genes that code for proteins that are part
of the membrane of red blood cells. These genes are ANK1, SLC4A1, SPTA1,
SPTB, and EPB42. HS is inherited in an autosomal dominant manner 75% of the time and an
autosomal recessive manner 25% of the time.
We all have two copies of all our genes. One copy is passed down from mom and one is passed
down from dad.
• In about 75 percent of cases, hereditary spherocytosis is inherited in an autosomal dominant
pattern, which means one copy of the altered gene in each cell is sufficient to cause the
disorder. In some cases, an affected person inherits the mutation from one affected parent.
Other cases result from new mutations in the gene and occur in people with no history of the
disorder in their family.

5. Continue
This condition can also be inherited in an autosomal recessive pattern, , which
means both copies of the gene in each cell have mutations. The parents of an
individual with an autosomal recessive condition each carry one copy of the
mutated gene, but they typically do not show signs and symptoms of the
condition.
Disease-causing changes in the genes associated with HS cause defects in
membrane proteins of red blood cells. This reduces the surface area of the
cells and leaves the cells unable to change shape under pressure. These are the
rounded spherocytes. Spherocytes are trapped in the spleen. In the spleen,
spherocytes are further damaged and many are destroyed. Those that escape
the spleen re-enter circulation.

6. Autosomal Dominant Condition

7. Autosomal Recessive Condition

8. Symptoms of Hereditary Spherocytosis
Hereditary spherocytosis can range from mild to severe. Symptoms vary depending on the
severity of the disease. Most individuals with HS have moderate disease. People with mild
HS may be unaware they have the disease.
Anemia
Spherocytosis causes your red blood cells to break down faster than healthy cells do, which
can lead to anemia. If spherocytosis causes anemia, you may appear paler than normal.
Other common symptoms of anemia from hereditary spherocytosis can include:
fatigue
shortness of breath
irritability
dizziness or lightheadedness
increased heart rate
headache
heart palpitations
jaundice

9. Jaundice
When a blood cell breaks down, the pigment bilirubin is released. If your red blood cells
break down too quickly, it leads to too much bilirubin in your bloodstream. An excess of
bilirubin can cause jaundice. Jaundice causes the skin to turn yellowish or bronze. The
whites of the eyes can also turn yellow.
Gallstones
Excess bilirubin can also cause gallstones, which can develop in your gallbladder when
too much bilirubin gets into your bile. You may not have any symptoms of gallstones
until they cause a blockage. Symptoms may include:
sudden pain in your upper right abdomen or below your breastbone
sudden pain in your right shoulder
decreased appetite
nausea
vomiting
fever
jaundice

10. Symptoms in children
Infants may show slightly different signs of spherocytosis. Jaundice is
the most common symptom in newborns, rather than anemia,
especially in first week of life. Call your child’s pediatrician if you
notice that your infant:
has yellowing of the eyes or skin
is restless or irritable
has difficulty feeding
sleeps too much
produces fewer than six wet diapers per day
The onset of puberty may be delayed in some children who have HS.
Overall, the most common findings in hereditary spherocytosis are
anemia, jaundice, and an enlarged spleen.

11. Complications of Hereditary Spherocytosis
Gallstones
Gallstones are common in hereditary spherocytosis. Some has shown
that up to half of people with HS will develop gallstones by the time
they are between 10 and 30 years old. Gallstones are hard, pebble-like
deposits that form inside your gallbladder. They range greatly in size
and number. When they obstruct the duct systems of the gallbladder,
they can cause severe abdominal pain, jaundice, nausea, and vomiting.
It’s recommended that people with gallstones have their gallbladder
surgically removed.

12. Enlarged spleen
An enlarged spleen is also common in HS. A splenectomy, or
procedure to remove the spleen, can solve the symptoms of HS, but it
can lead to other complications.
The spleen plays an important role in the immune system, so
removing it can lead to increased risk of certain infections. To help
decrease this risk, your doctor will likely give you certain
immunizations (including the Hib, pneumococcal, and meningococcal
vaccines) before removing your spleen.
Some research has looked at removing only part of the spleen to
decrease the risk of infections. This may be especially useful in
children.
After your spleen is removed, your doctor will give you a
prescription for preventive antibiotics that you take by mouth daily.
The antibiotics can help further lower your risk of infections.

13. Diagnosis of Hereditary Spherocytosis
HS is most often diagnosed in childhood or early adulthood. In about 3 out of
4, there’s a family history of the condition. Your doctor will ask you about the
symptoms you have. They’ll also want to know about your family and medical
history.
Your doctor will perform a physical exam. They will check for an enlarged
spleen, which is usually done by palpating different regions of your abdomen.
It’s likely your doctor will also draw your blood for analysis. A complete blood
count test will check all your blood cell levels and the size of your red blood
cells. Other types of blood tests can also be useful. For example, viewing your
blood under the microscope allows the doctor to see the shape of your cells,
which can help them determine if you have the disorder.
Your doctor may also order tests that check your bilirubin levels.

14. Treatment of Hereditary Spherocytosis
There is no cure for HS, but it can be treated. The severity of your symptoms will
determine which course of treatment you receive. Options include:
Surgery: In moderate or severe disease, removing the spleen can prevent
common complications that result from hereditary spherocytosis. Your red blood
cells will still have their spherical shape, but they’ll live longer. Removing the
spleen can also prevent gallstones.
Not everyone with this condition needs to have their spleen removed. Some mild
cases can be treated without surgery. Your doctor might think less invasive
measures are better suited for you. For example, surgery is not recommended for
children who are younger than 5 years.
Vitamins: Folic acid, a B vitamin, is usually recommended for everyone with
HS. It helps you make new red blood cells. A daily dose of oral folic acid is the
main treatment option for young children and people with mild cases of HS.

15. Transfusion: You may need red blood cell transfusions if you have
severe anemia.
Light therapy: The doctor might use light therapy, also called
phototherapy, for severe jaundice in infants.
Vaccination: Getting routine and recommended vaccinations are
also important to prevent complications from infections. Infections
can trigger the destruction of red blood cells in people with HS.