Sickle Cell Anemia

as small blood vessels become blocked, pain and fever can result

as well as breath shortness indicate anemia, a lack of RBC to the tissues

A patient may experience pain wherever sickled blood cells block oxygen flow to tissues

The slow rate of growth is caused by a shortage of red blood cells

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001554/

http://www.wepsicklecell.org/about/

http://www.nhlbi.nih.gov/health/health-topics/topics/sca/

http://kidshealth.org/teen/diseases_conditions/blood/sickle_cell_anemia.html

http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml

http://images.yourdictionary.com/sickle-cell

Sickle Cell Anemia

Blood Vessels

Gallstones

Ulcers

Glutamic acid replaced by Valine

• 1) hemoglobin becomes less soluble under decreasing oxygen concentrations

• less polar
• favors hydrophobic interactions

Multiple Organ Failure

]

Hemoglobin S

2) hemoglobin polymerizes into crystals

• abnormal hemoglobin clumps together after giving up oxygen

ancestors of the

sub-Saharan

Transfusion therapy for young children

Identifying peptides that inhibit Hb S

polymerization

Complications

Sickle Cell Anemia

Controlled pain interaction for adolescents

South America

Brian Tsang

Marco Lawandy

Saudi Arabia

Ways to increase gamma-globin expression in SCA

Africa

Cuba

Acute Chest Syndrome

India

Current Research

Infection incidence of SCA in young African children

Glutamic Acid

The National Institues of Health currently have many ongoing research projects across the world

beta

subunit

oral penicillin twice a day helps prevent early death

alpha

subunit

Stats

Official Gene Symbol:

HBB

Other

Name of Gene Product:

1) hemoglobin, beta

2) beta globin

100 000

mRNA:

626 bp (intron-free)

Oral Antibiotics

Protein Size:

James

Herrick

146 amino acids

15,867 Da

Mutation:

1910

Nutrition

supplementation

studies in sickle

cell disease

Hemglobin S (Hb S)

Glutamic Acid

(6th position of AA)

1 in 12

1 in 500

NO CURE

Prevalence

Blacks/Africans

First formal description of sickle cell anemia

Hispanic American

births

Pulmonary Hyper-

tension

1 in 36 000

Black/African American

births

increases the number of normal RBC in the bloodstream

United

States

SCA associated with low oxygen conditions

Mortality

Rate

Blood Transfusions

1927

0 - 3

69%

1940

(Yrs old)

Treatments

Medi-terranean

reduces frequency of painful crises and acute chest

syndrome

39%

4 - 9

Hydroxyurea

Stroke

History

SCA associated with hemoglobin

24%

Turkey

10 - 14

Greece

Italy

Presence of fetal Hb in the RBC of sickle cell newborns is why newborns don't show symptoms

1948

Symptoms

First discovered treatment:

1995

1949

Discovered the cause of SCA was linked to a change in protein structure

Fatigue,

Paleness

Sudden

Pain

Hydroxyurea reduces the frequent, painful complications that characterize SCA

Discovery that the change of a single amino acid is the cause of sickle cell anemia

The retina can deteriorate when it does not get enough

nourishment from circulating red blood cells.

electrophoresis is the most frequently used diagnostic test

Sight

Deterior

-ation

After

Damage to the retina can be serious enough to cause blindness.

Hand-Foot

Syndrome

1956

• inherited condition
• autsomal recessive
• X-chromosome
• Carriers will not express SCA

can be determined before or after birth

How it's Transmitted

Diagnosis

Early diagnosis is Critical!

• must have 2 copies to get SCA

Delayed

Growth

Before

• 10 weeks into pregnancy

The Test

• looks for the sickle cell gene

Amniotic fluid sample

OR

Placental tissue

• RBC develops a sickle shape

• Stiff and sticky

• Tends to block blood flow in blood vessels

• Blocked blood flow can cause pain, serious infections & organ damage

B T

Marco L

Sources

http://jeopardylabs.com/edit/enter-title81334