EBOLA

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Blood disorder disease

• Elham Ahmed

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Neonatal Hyperbilirubinemia
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Hyperbilirubinemia (also known as jaundice)

• Imbalance of bilirubin production and elimination
• In order to clear from body must be
• Conjugated in liver
• Excreted in bile
• Eliminated via urine and stool

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Jaundice disease?

• Jaundice is bilirubin that is deposited in the
  skin and mucous membranes. It is the end product
  of haem breakdown.
• Lysis of red blood cells releases haem from
  haemoglobin, haem is then converted to bilirubin
  and excreted

• It may occur due to physiologic factors that are
  seen as normal in the newborn
• It may be due to pathologic factors that alter
  the usual process in bilirubin metabolism

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Bilirubin

• Final product of heme degredation
• Insoluble in plasma (needs to be bound to
  albumin)
• Has to go to liver to be conjugated
• After liver, excreted in bile

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Bilirubin exists in two main forms in serum

• Conjugated (direct) bilirubin
• Water soluble
• It is metabolized by the liver
• It is mostly excreted in stool and some in the
  urine

• Unconjugated (indirect) bilirubin
• Fat-soluble
• Not yet metabolized by by the liver
• Is not easily excreted
• Is the biggest concern for newborn jaundice
• If it is not converted it can be deposited into
  the skin which causes the yellowing of the skin
  or into the brain which can lead to kernicterus

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• Deposits in skin and mucous
• membranes
• Unconjugated bilirubin deposits in the brain
• Permanent neuronal damage

JAUNDICE
ACUTE BILIRUBIN ENCEPHALOPATHY
KERNICTERUS
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Types of Hyperbilirubinemia
Physiologic Occurs 24 hours after birth Prematurity Polycythemia Pathologic Occurs less than 24 hours after birth Hemolytic anemia G6PD deficiency
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Acute Bilirubin Encephalopathy/Kernicterus
Kernicterus is a rare, irreversible complication
of hyperbilirubinemia If bilirubin levels become
markedly elevated, the unconjugated bilirubin may
cross into the blood brain barrier and stain the
brain tissues
If staining of the brain tissues occurs there is
permanent injury sustained to areas of the brain
which leads to neurological damage
Picture Of A Brain With Kernicterus
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Early signs of kernicterus are lethargy , poor
feeding, temperature instability, and hypotonia
Symptoms then progress to hypertonia,
opisthotonos and arching, fever, seizures, and
high pitched cry Long term effects are
choreoathetoid cerebral palsy , tremerousness,
mental retardation, sensorineural hearing loss,
dental dysplasia , and upward gaze paresis
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Genetics Hyperbilirubinemia
A study done from 2001 to 2003 looked at three
enzymes with possible genetic defects that were
linked to increased rates of hyperbilirubinemia
in the Asian population
The study was conducted in Taiwan The reason for
this is because the Asian population has twice
the incidence of hyperbilirubinemia than the
Caucasian population

• The three enzymes are
• G6PD - glucose-6-phosphate dehydrogenase
• OTAP 2 - organic anion transporter 2
• UGT1A1 - UDP-glucuronsyl transferase 1A1

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Diagnosis

• Check bilirubin level
• Check complete blood count
• Check reticulocyte count
• Coombs test
• Blood groups types
• G6PD level
• Albumin level
• Visual assessment (least reliable)

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Treatment

• Phototherapy is treatment of choice
• Encourage frequent feedings
• Intravenous hydration
• Intravenous immune globulin
• Exchange transfusion

An infant undergoing phototherapy
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(No Transcript)
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Sickle Cell Disease
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What Is Sickle Cell Disease

• An inherited disease of red blood cells
• Affects hemoglobin
• Polymerization of hemoglobin leads to a cascade
  of effects decreasing blood flow
• Tissue hypoxia causes acute and chronic damage

1. Glutamic acid is substituted for valine
2. Allowing the polymerization of sickle hemoglobin
   when deoxygenated

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The origin of the disease is a small change in
the protein hemoglobin
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Normal Vs. Sickle Red Cells
Normal red blood cells are round like
doughnuts, and they move through small blood
tubes in the body to deliver oxygen. Life span of
120 days
Sickle red blood cells become hard, sticky and
shaped like sickles used to cut wheat. When these
hard and pointed red cells go through the small
blood tube, they clog the flow and break apart.
This can cause pain, damage and a low blood
count, or anemia. Lives for 20 days or less
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Symptoms
Anemia The shriveled blood cells of an
individual with this disorder may break apart,
causing a shortage in red blood cells, thus
providing little oxygen to the body for usage.
Called anemia, this oxygen deprivation often
results in fatigue for the individual. Frequent
Internal Pain Because of their irregular shape,
sickled blood cells may become caught in certain
circulatory passages, causing pain through the
restriction of blood to chest and the abdomen.
This blockage may also occur in the hands and
feet, which are known to swell in sickle-cell
patients. Jaundice The livers of afflicted
individuals become overwhelmed by the collapse of
weakened blood cells, causing extensive damage to
the liver and the eventual yellowing of the skin.
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Damaged vision The sickled blood cells, awkward
in shape, often clog the blood vessels that
connect to the retina, causing optical
damage. Limited Growth The scarcity of oxygen
caused by sickle-cell anemia is detrimental to
healthy human growth.
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Causes
disease is an inherited blood disorder, passed
from parent to child. Children with sickle cell
disease have two defective hemoglobin S genes ,
one from each parent. Various forms of sickle
cell disorder  occur when a person inherits one
hemoglobin S gene (sickle cell gene) from one
parent and one other type of defective hemoglobin
 gene from the other parent. Normally, a person
inherits two genes that tell the body to produce
normal hemoglobin A. One gene comes from each
parent. People who inherit one defective
hemoglobin S gene and one normal hemoglobin A
gene have sickle cell trait. These people don't
have symptoms of sickle cell disease, and their
bodies don't make sickled blood cells. But they
can pass the defective hemoglobin S gene to their
children.
.
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Treatment
Folic Acid Because the sickle cells are weak and
prone to shattering, folic acid, a nutrient vital
in blood cell production, is constantly taken by
sickle-cell patients. Drugs During a
sickle-cell crisis, a period in which body parts
ache due to blood flow blockage, pain medications
are often required to ease the intense pain, and
in some cases, narcotics, like Hydroxyurea, are
taken into the blood stream. Treatments for
Possible Complications Dialysis or kidney
transplant for kidney disease Gallbladder
removal Hip replacement Partial exchange
transfusion for acute chest syndrome Surgery for
eye problems Transfusions or surgery for strokes
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Thanks