2. Symptoms and Diagnosis
A child is brought into a health provider to be evaluated for an unknow disorder.
The child is six months old and has developed swollen hands and feet along with
tell tail signs of distress. The parents also complain of the child having labored
breathing and a slight red tint in their urine. The physician then runs some test
including a blood draw and oximeter where it was found that the infant blood
oxygen concentration was extremely low and their red blood cell count was below
average for a child of its age.
4. Possible Disorders Other Than Sickle Cell
Anemia
Respiratory disorder failing the infant in oxygen needs
Cardiovascular disorder starving the child of blood supply
Blood infection causing destruction of blood cells
5. Additional Testing
Testing for hemoglobin S was also performed to positively confirm that sickle cell
anemia is the culprit along with hemoglobin SS, SB and SC.
Genetic testing due to sickle cell anemia being a genetic disorder
6. Mutation of Genetic Material
A mis-sense mutation is the culprit of
Sickle Cell Anemia. This is when there is
a single base substitution causing the
coding of a different amino acid to
appear. In the example to the right GLU
was the intended amino acid but VAL
was expressed instead cause a weakness
in the structure in the red blood cell.
7. Abnormalities of Hemoglobin
The average life
span of a
typical red
blood cell in 12
days but in the
case of an
individual
suffering from
Sickle Cell
Anemia the
average life
span is
shortened to 20
days or less.
9. Protein Structure
This mutation in the DNA of the
amino acid switching from the
GAG sequence to the GTG
sequence of Valine. This impacts
the RNA transcripts for replication
and damages the hemoglobin.
11. Race and Sickle Cell Anemia
The disease usually does
not appear as symptomatic
until the age of 4 months.
12. Treatments
Protein Supplements to help provide for weak cells
Multivitamins for improved cell function
Antibiotic to help prevent life threatening infections
Blood transfusion to help prevent strokes
Stem cell transfusions are rarely used
Bone Marrow transplant
No cure at the moment
