Scribd
Upload
40 views

Presented By: Lukes Gutierrez

The document discusses sickle cell anemia, a hereditary blood disorder caused by an abnormal hemoglobin molecule in red blood cells. It describes normal versus sickle cells, symptoms, inheritance patterns, testing, and treatment. It also explains how the sickle cell allele provides resistance to malaria, causing its high prevalence in areas where malaria is common.

Uploaded by

Lukes Gutierrez
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
40 views

Presented By: Lukes Gutierrez

The document discusses sickle cell anemia, a hereditary blood disorder caused by an abnormal hemoglobin molecule in red blood cells. It describes normal versus sickle cells, symptoms, inheritance patterns, testing, and treatment. It also explains how the sickle cell allele provides resistance to malaria, causing its high prevalence in areas where malaria is common.

Uploaded by

Lukes Gutierrez
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
You are on page 1/ 23

ANEMIA

PRESENTED BY:
LUKES GUTIERREZ

WHAT IS SICKLE CELL ANEMIA


Most common form of Sickle Cell Disease
(SCD)
Hereditary blood disorder abnormality in
hemoglobin molecule in red blood cells
Hemoglobin transports oxygen from
respiratory organs to the rest of the body.
Normal hemoglobin (hemoglobin A)
replaced by sickle hemoglobin (hemoglobin
S).

Normal Red Blood


Cells

Abnormal Red Blood


Cells

Instead of donut-shaped cells sickle-shaped cells

Sickle cells block bloody flow in blood vessels

Lack of red blood cells die after 10-20 days (vs. 120
days)

INCIDENCE
Most commonly inherited blood
disorder in the US
Over 2 million Americans are carriers
of SCD
70,000-80,000 affected Americans
Highest incidence rate in AfricanAmericans when compared to other
ethnicities.
1 out of 350 are affected
1 in 12 are carriers

INCIDENCE
NOT only people of African ancestry
but also of Mediterranean, Middle
Eastern, Indian ancestry, and people
from the Caribbean and parts of
Central and South America.
1 out of 36,000 Hispanic-American
births are affected and 1 in 100 are
carriers.

SYMPTOMS
Present at birth
Most common are anemia and pain
Hand-foot syndrome
Frequent infections
Delayed Growth
Vision Problems
Symptoms can vary per person

WHEN TO SEE A DOCTOR?


Unexplained episodes of severe pain
Swelling in the hands or feet
Abdominal swelling
Fever
Pale skin or nail beds
Yellow tintto the skin or whites of the eyes
Any signs or symptoms of stroke

TREATMENT
No widely available cure
Bone marrow transplant
(only potential cure)
Aimed at avoiding crises,
relieving symptoms and
preventing complications
Medications to reduce pain
are available
Blood transfusions and
supplemental oxygen

TESTING

Blood Test can check for hemoglobin S


If negativeno sickle cell gene present
If positivefurther tests are done to
determine if there are one or two sickle
genes present
Can be done before birth through
sampling fluid surrounding the unborn
baby in the womb
With good health care, many people who
have sickle cell anemia can live
productive lives and today are living into
their forties and fifties

GENE

Mutation on hemoglobin-Beta gene.


The allele responsible is in the short arm of
chromosome 11.
6th amino acid (glutamic acid) replaced by valine and
changes the function.
Known mutation of a single nucleotide (A to T).
CTC codon CAC codon which is transcribed from
the template strand into a GUG codon.

INHERITANCE PATTERN
Autosomal recessive pattern of
inheritance.
In carriers (heterozygous Rr) problems
are minor normal allele produces over
50% of the hemoglobin.
Symptoms only if deprived oxygen.

Rr

Rr

Rr

Rr

RR

RR

rr

RR

rr

Rr

RR

rr

rr

Rr

Rr

Rr

Rr

Retrieved from the National Heart, Lung and Blood


Institute website

rr

rr

Rr

Rr

rr

rr

Rr

Rr

rr

rr

Rr

rr

RR

SO COMMON IN PEOPLE OF
AFRICA AND INDIAN
ANCESTRY?

Malaria kills on average 1.2 million people


Malaria is most prevalent in the southern
hemisphere, particularly in Africa and Southern
Asia

WHY SICKLE CELL ANEMIA


SO COMMON IN PEOPLE OF
AFRICA
AND INDIAN ANCESTRY?
Malaria is caused by the bite of
infectedAnopheles mosquitoes.
Infected mosquitoes carry a parasitic
protozoan ( microorganism)
The parasite spends the first stage of its
life cycle in the salivary glands of the
mosquitoAnopheles Gambiae.

WHY SICKLE CELL ANEMIA SO


COMMON IN PEOPLE OF AFRICA
AND INDIAN ANCESTRY?
When an infected mosquito bites a
human, the malaria parasite enters the
red blood cells.
The parasites multiply inside the red
blood cells.
After 48 to 72 hours, the infected red
blood cells burst, infecting more red blood
cells.
The parasite spreads throughout the body
and eventually infects the liver.

WHY SICKLE CELL ANEMIA SO COMMON


IN PEOPLE OF AFRICA AND INDIAN
ANCESTRY?

People who inherited one copy of the sickle


cell allele had red blood cell membranes that
did not admit the parasite.
Carriers had more children and passed the
protective allele to approximately half of
them.

WHY SICKLE CELL ANEMIA SO


COMMON IN PEOPLE OF AFRICA
AND INDIAN ANCESTRY?

Due to Malaria being prevalent in Africa and


India, the frequency of sickle cell allele
increased from 0.1% to over 45% over 35
generations.
This is because carriers for the sickle cell
allele have some natural protection against
malaria.

The sickle cell gene provides 60%


protection against overall mortality of
Malaria
This is why the frequencies of sickle cell
carriers are high in malaria-endemic
areas.
Researchers believe that the sickle cell
allele might have been brought over to
Africa from India or that the mutation
might have started in East Africa.

CONCLUSION
There are effects
at the genetic
level

There are
effects at the
protein level

There are
effects at
the cellular
level

Negative effects at the organism level:


symptoms

Positive effects at the organism level:


resistance to malaria

WORKS CITED
http://bionews-tx.com/news/2013/05/08/texas-am-team-takes-on-malaria-withincredible-results
/
http://www.cdc.gov/malaria/about/biology/sickle_cell.html
http://
www.pbs.org/wgbh/evolution/educators/course/session7/explain_b_pop1.html
http://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/basics/tr
eatment/con-20019348
http://www.nhlbi.nih.gov/health/health-topics/topics/sca/signs.html
www.evolution.berkeley.edu/evolibrary/article/mutations_06
http://www.nhlbi.nih.gov/health/health-topics/topics/sca
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied
Health, Seventh Edition. 2003 by Saunders, an imprint of Elsevier, Inc

EXAM QUESTIONS
List two differences between
normal red blood cells and sickle
cells.
What is the probability of an
offspring having sickle cell disease
(affected) if both parents are
carriers?

EXAM QUESTIONS
How does being a carrier for the sickle
cell allele protect you from malaria?
What protein, present in red blood
cells, is in charge of carrying oxygen
from respiratory organs to the rest of
the body?

You might also like