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Sickle Cell
Transcript
Let's Get technical!
BUT WHAT DOES THIS MEAN?
Genotype
Sickle Cell Anemia
- This disorder is an autosomal recessive disorder.
- Both parent were carriers of the recessive gene (DNS)
Let's take a closer look!
HBB Gene
Let's Get REAL!
DANGER!
- Hemoglobin, Beta (Instructions)
- Beta Goblin (Sub-component)
- Four Subunits - Beta and Alpha goblin
- Nucleotides within the HBB gene are changed. (Deleted, Inserted) - HBS
- Hemoglobin S replaces Beta Globin
- Glutamic acid (AA) is replaced with valine (AA) at position 6 in beta-globin. (Glu6Val & E6V)
- Sickle Cells can cause logjams in the capillaries
- Oxygen Deprivation can Kill! - Organs need oxygen
- The glutamine-valine switch causes HbS to stick together.
- They form long, rigid molecules, bending red blood cells into a sickle
- The sickle-shaped cells can also block small blood vessels, causing pain and organ damage.
- Depending on where the nucleolus on the HBB gene was changed, Hemoglobin E, B and A can be produced.
What is Sickle Cell?
Where one person shapes their life by precept and example, there are a thousand who have shaped it by impulse and circumstances.
-James Russell Lowell
- A group of disorders that affects hemoglobin
- Hemoglobin S
- Sickle - Misconception
Who has it?
Prognosis
- Ancestors come from Africa
- Mediterranean countries (Greece, Turkey, Italy)
- Arabian Peninsula (India)
- South America, Central America, and Caribbean
- You go girl! - Life expectancy (Increasing since 1973 (14), to more than 50!
- Children with sickle cell disease are very susceptible to infections - Spleens.
- Older patients are now facing acute chest syndrome, long-term damage to major organs, stroke, complications during pregnancy such as high blood pressure, and low infant weight
(Not so) Fun Facts
Treatment
- Most common (Blood disorder)
- 70,000-80,000 Americans
- 1 in 500 African Americans
- 1 in 1400 Hispanic Americans
- 1 Hemoglobin = 4 oxygen molecules!
- 280 MILLION hemoglobin in one blood cell
Antibiotics - Bacteria
Blood transfusions (Iron!)
Folic Acid
Hydroxyurea (Droxia) - Block the sickling
Bone marrow and stem cell transplantation - replace bad part
SOURCES
http://ghr.nlm.nih.gov/gene/HBB
http://ghr.nlm.nih.gov/condition/sickle-cell-disease
http://www.ncbi.nlm.nih.gov/books/NBK1377/
http://umm.edu/health/medical/reports/articles/sickle-cell-disease
Phenotype
- Shortness of breath
- Fatigue
- Yellowing of eyes and skin
- Delayed growth and development in children
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