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Sickle Cell Anemia

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

SCD

2 million Americans are carriers of

70,000-80,000

affected Americans

Highest

incidence rate in AfricanAmericans when compared to other


ethnicities.
1

out of 350 are affected

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.

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

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Retrieved from the National Heart, Lung and Blood


Institute website

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Why Sickle Cell Anemia 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-malariawith-incredible-results
/

http://www.cdc.gov/malaria/about/biology/sickle_cell.html

http://
www.pbs.org/wgbh/evolution/educators/course/session7/explain_b_po
p1.html

http://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/basic
s/treatment/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?

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