SICKLE CELL

ANEMIA
 DEFINITION
• Sickle cell disease is an inherited blood disorder that
is caused by the presence of a mutation in the gene
that encodes for the protein, hemoglobin, which
carries oxygen to the tissues.
 The Normal Hemoglobin Structure
• Consists of four protein subunits:
– Two subunits of beta-globin
– Two subunits of alpha-globin.
• Each of the four protein subunits carries an iron-
containing molecule called heme.
• Heme molecules are necessary for red blood cells to
pick up oxygen in the lungs and deliver it to cells
throughout the body
• The HBB gene, located on chromosome 11, provides
instructions for making a protein called beta-globin.
 Hemoglobin in Sickle Cell
• People with this disorder have
atypical hemoglobin molecules
called hemoglobin S, which can
distort red blood cells into a sickle,
or crescent, shape.
• They sick together forming long
fibers or rods which are stiffer while
travelling through the blood vessels.
• Tissue that does not receive a
normal blood flow eventually
becomes damaged
 Types of Sickle Cell
Disease

Sickle- Sickle Beta- Sickle Beta-

Sickle Cell
Hemoglobin C Plus Zero
Anemia (SS)
Disease (SC) Thalassemia Thalassemia

Most
Common
 Causes
Mutation in the HBB gene on
chromosome 11
• In sickle cell, the code inside
both beta globin genes is
different.
• Instead of containing the letters
G-A-G, the code reads G-T-G.
• The new G-T-G code puts valine
instead of the usual glutamate
amino acid into the protein.
 Inheritance of Sickle Cell
• This condition is 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, their body makes both
sickle hemoglobin and normal hemoglobin, but they typically do
not show signs and symptoms of the condition.
Example of Inheritance for Sickle
Cell Trait.
 SYMPTOMS
▪ Do not occur until after the
age of 4 months.
▪ Blocked blood vessels →
painful episodes called
crises. May need
hospitalization.
▪ Blocked blood vessels →
Lung, Spleen, Heart damage.
▪ Anemia → Fatigue, rapid
heart rate, yellowing of
eyes, shortness of breath.
 Diagnosis
• Hemoglobin Electrophoresis is used to screen
for sickle cell disease at birth.
– This test uses a sample of blood from infant and
determines what types of hemoglobin are present
 Hemoglobin Electrophoresis
• Two different types of Hemoglobin are present:
-The A type (normal) -The S type (sickle)
• A carrier makes both types.
• A person with sickle-cell will have the S-type
• A normal person will only have the A-type
 Prenatal Diagnosis
• Diagnosis before birth is done by a method called
amniocentesis:
– Take a sample of amniotic fluid (fluid surrounding baby) or
tissue taken from the placenta (organ that attaches the
umbilical cord to the mother's womb) and test it for sickle
hemoglobin gene rather than abnormal hemoglobin
• Testing before birth can be done as early as 10 weeks
into the pregnancy.
 Genetic Counseling
• Individuals who test positive should be informed about the
implications for their health and family planning.
• SCT counseling has two components: education and
decision-making.
– For the first group, the focus is on education, that is, to
enable individuals to make informed decisions, in their own
interest, about future family planning.
– For the second group, the focus is on education and
informed decisions, in their best interest, about the current
pregnancy.
• Counseling should be done by geneticists, master’s degree
genetic counselors, social workers, and psychologists.
 TREATMENT GOALS

Prevent
infections, Control
Relieve pain
organ damage Complications
and strokes.
 Blood and marrow stem cell May offer a cure for a small
transplant number of people.
Treatment
Medicines and Fluids For treatment of pain.

Prompts your body to make fetal

hemoglobin which in sickle cell, helps
Hydroxyurea prevent red blood cells from sickling
and improves anemia.

Reducing recurrent pain crises, risk

Blood transfusion of stroke and other complications
by removing excess iron from body.

Treat infections that resulted from

Antibiotics + Vaccinations
complications.
 Who Is at Risk for Sickle Cell
Anemia?
• Sickle cell anemia is most common in people whose families
come from Africa, South or Central America (especially Panama),
Caribbean islands, Mediterranean countries (such as Turkey,
Greece, and Italy), India, and Saudi Arabia.
• In 2013, sickle cell disease resulted in 176,000 deaths up from
113,000 deaths in 1990.
• Occurs in about 1 out of every 500 African American births.
• Also affects Hispanic Americans. Occurs in more than 1 out of
every 36,000 Hispanic American births.
• More than 2 million Americans have sickle cell trait. The
condition occurs in about 1 in 12 African Americans.
 References
• "Your genes and Your health." cold spring harbor laboratory.
N.p., n.d. Web. 8 June 2015. <http://ygyh.org/>.
• "NCBI." National Center for biotechnology information. N.p.,
n.d. Web. 8 June 2015. <http://www.ncbi.nlm.nih.gov/>.
• "SCDAA." Sickle Cell Disease. N.p., n.d. Web. 8 June 2015.
<http://sicklecelldisease.org/>.
• "American Sickle Cell Anemia Association." Ascaa. N.p., n.d.
Web. 8 June 2015. <http://ascaa.org/>.
• "Genetics Home Reference." Ghr. N.p., n.d. Web. 8 June 2015.
<http://ghr.nlm.nih.gov/>.