BLOOD NOTES

These notes are complimentary to the textbook to help students better understand some applications

JAUNDICE
What is jaundice?
Jaundice is not a disease but rather a sign that can occur in many different diseases. Jaundice is the yellowish staining
of the skin and sclera of the eye that is caused by high levels in blood of the chemical bilirubin.
What causes jaundice?
Hemoglobin is released from the destroyed red blood cells when they become old. After that the iron it is
removed from hemoglobin and it becomes bilirubin.
One of the liver's functions is to produce and secrete bile into the intestines to help digest dietary fat. Liver also
removes bilirubin from the blood and secretes it into bile, and then bilirubin is eliminated in the feces.
Jaundice c a n occur for three reasons:
1) too much bilirubin being produced in the blood and liver cannot remove all of it. (For example, patients with
hemolytic anemia have an abnormally rapid rate of destruction of their red blood cells that releases large amounts of
bilirubin into the blood),
2) a defect in the liver that prevents bilirubin from being removed from the blood,
3) blockage of the bile ducts that decreases the flow of bile and bilirubin from the liver into the intestines. (For
example, the bile ducts can be blocked by cancers, gallstones, or inflammation of the bile ducts).

What is neonatal jaundice (jaundice in newborn infants)?

 Neonatal jaundice begins within the first few days after birth.
 Bilirubin levels in the blood become elevated in almost all infants during the first few days following birth, and
jaundice occurs in more than half.
 Most of the infants, this elevation and jaundice represents a normal physiological phenomenon and
does not cause problems.
 However it may cause problem in few infants.
 Red blood cells of the fetus contain a type of hemoglobin (Fetal hemoglobin) that is different from the
hemoglobin that is present after birth (Adult hemoglobin).
 After birth, red blood cells containing the fetal-type hemoglobin are destroyed and replaced with red blood cells
containing the adult-type hemoglobin.
 This floods the liver with bilirubin derived from the fetal hemoglobin from the destroyed red blood cells.
 Liver of newborn is immature, unable to eliminate bilirubin.
 As a result of bilirubin accumulates in the blood.
 After 2-3 weeks, the destruction of red blood cells ends, also the liver is mor e mature, and the bilirubin levels
return to normal.

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 1. Physiologic jaundice usually does not cause problems for the infant; however, there is a concern that
high or prolonged elevations in levels of bilirubin will cause neurologic damage to the infant. Therefore,
when bilirubin levels are high or prolonged, treatment usually is started to lower the levels of bilirubin.
Treatment may be started earlier in infants who are born prematurely since their liver take longer to mature,
and the risk of higher and more prolonged elevations of bilirubin is greater. Treatment involves phototherapy
with artificial or natural sunlight and, if phototherapy is not successful, exchange transfusion in which
the infant's blood is exchanged for normal blood from blood donors.
2. Hemolytic disease of the newborn, a much more serious, even life-threatening cause of jaundice in newborns
that is due to blood group incompatibilities between mother and fetus, for example Rh
incompatibility. The incompatibility results in an attack by the mother's antibodies on the babies' red
blood cells leading to hemolysis. Fortunately, because of modern management of pregnancy, this cause of
jaundice is rare.

How is the cause of jaundice diagnosed?

1. Patients medical history and physical examination
2. Laboratory tests

History
The history can suggest possible reasons for the jaundice. For example, heavy use of alcohol suggests alcoholic liver
disease, whereas use of illegal, injectable drugs suggests viral hepatitis. Recent initiation of a new drug suggests
drug-induced jaundice.

Blood tests
1. Elevations of bilirubin (greater than normal levels) in the blood suggest hemolysis (destruction of red blood cells).
2. Marked elevations of liver enzymes in the blood suggest inflammation of the liver (such as viral hepatitis).

Ultrasonography
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Ultrasonography is a simple, safe, and readily-available test that uses sound waves to examine the organs
within the abdomen. Ultrasound examination of the abdomen may show gallstones, tumors in the liver or
the pancreas, and dilated bile ducts due to obstruction (by gallstones or tumor).
Computerized tomography (CT or CAT scans)
CT scans use x-rays to examine the soft tissues of the abdomen. They are particularly good for identifying tumors
in the liver and the pancreas and dilated bile ducts, though they are not as good as ultrasonography for
identifying gallstones.
How is jaundice treated?
With the exception of the treatments for specific causes of jaundice mentioned previously, the treatment of jaundice
usually requires a diagnosis of the specific cause of the jaundice and treatment directed at the specific cause, e.g.,
removal of gallstone blocking the bile duct.

Thalassemia
Epidemiology
 Thalassemia is more in regions with humid climates where malaria was endemic.
 Thalassemia protects these people from malaria due to the blood cells' easy degradation.
 Thalassemia is associated with people of Mediterranean origin, Arabs, and Asians.

Pathophysiology
 Deficiency of either α or β globin. Unlike sickle-cell disease, in which produces a specific mutant form of β globin.
 Classified according to which chain of the hemoglobin molecule is affected.
 In α thalassemia, production of the α globin chain is affected. The α globin chains are encoded by two
closely linked genes on chromosome 16. Four loci encode the α chain.
 In β thalassemia production of the β globin chain is affected. The β globin chains are encoded by a single gene on
chromosome 11. Two loci encode the β chain.
Deletion of one of the α loci has a high prevalence in people of African or Asian descent, making them more likely
to develop α thalassemia.
Cause
 Thalassemia is a group of inherited (autosomal recessive) diseases.
 In autosomal recessive disease, both parents must be carriers for a child to be affected.
o There is a 25% risk with each pregnancy for an affected child.
 Genetic counseling and genetic testing is recommended for such families.

 60-80 million people in the world are carrying the -thalassemia trait alone.
 India and Pakistan are seeing a large increase of thalassemia patients due to lack of genetic counseling and
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 screening.
 Thalassemia may become a very serious problem in the next 50 years.
 Increasing prevalence of this disease in countries with little knowledge of thalassemia, access to proper treatment
and diagnosis can be difficult.

Treatment

A) Medical care
 Mild thalassemia: do not require medical care or follow-up after the initial diagnosis. Patients with β-
thalassemia trait should be warned that their blood picture resembles iron deficiency and can be misdiagnosed.
They should avoid empirical use of Iron therapy; yet iron deficiency can develop during pregnancy or from chronic
bleeding. Counseling is indicated in all persons with genetic disorders, especially when the family is at risk of a
severe form of disease that may be prevented.
 Severe thalassemia: require medical treatment, and a blood transfusion regimen is effective in prolonging
life.

B) Medication
Medical therapy for β-thalassemia primarily involves iron chelation. The antioxidant can be incorporated into the
redox machinery of β-thalassemic RBC and defend the cell from oxidation, possibly interfering with perferryl-Hb, a
reactive intermediate in the hydroperoxide-dependent Hb degradation.

Complications
 Iron overload: People with thalassemia can get an overload of iron in their bodies, either from the disease itself
or from frequent blood transfusions. Too much iron deposition can result in damage to the heart, liver and
endocrine system, which includes glands that produce hormones that regulate processes throughout the body.
Without iron chelation therapy, patients with beta-thalassemia will accumulate potentially fatal iron levels.
 Infection: people with thalassemia have an increased risk of infection if the spleen has been removed as a
treatment.
 Bone deformities: Thalassemia can expand the bone marrow, causes bones to widen. This can result in abnormal
bone structure, especially in the face and skull. Makes bones thin and brittle, increasing the risk of broken bones.
 Enlarged spleen: the spleen aids in fighting infection and filters unwanted material, such as old or damaged blood
cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells, and the task of
removing these cells causes the spleen to enlarge. Splenomegaly can make anemia worse, and it can reduce the
life of transfused red blood cells. Severe enlargement of the spleen may necessitate its removal.
 Slowed growth rates: anemia can cause a child's growth to slow. Puberty also may be delayed in children with
thalassemia.
 Heart problems: such as congestive heart failure and abnormal heart rhythms
(Arrhythmias) may be associated with severe thalassemia.