Sickle Cell Anemia. By: Daniel Lee, Matt Milan, and Min- ki Kim. Sickle cell anemia is a disorder caused by an abnormal hemoglobin (protein that carries oxygen), it distorts the red blood cell. The “distorted” red blood is fragile, and it may burst.
Sickle Cell Anemia
By: Daniel Lee,
Matt Milan, and
of feet or hands)
(sudden pooling of
blood in spleen)
Example of Dactylitis
Q: What type of genetic disorder is it?
A: Autosomal recessive disorder.
Q: How is it inherited?
A: Two parents with either the disease or heterozygous trait that ends up with a child homozygous for the sickle cell gene.
Q: What is the life expectancy
A: Life expectancy is decreased. Median age of death in males is age 42, age 48 for women.
Q: What are the symptoms?
A: Symptoms are anemia (weakness, shortness of breath); jaundice (yellow skin color); bone pain, back or abdominal pain, pneumonia, stroke, skin ulcers.
Q: Is there any treatment?
A: The treatment includes prevention: such as avoid dehydration, cold, infection, hypoxia, fever, and acidosis as these conditions can make the cells turn from round/ smooth to pointy/sharp. Treatment of the crisis itself is to give oxygen, control the pain, treat any infection and occasionally give a blood transfusion with "normal" non- sickle cell blood.
Q: What current research is going on about this disease?
A: I am sure there is research going on but the disease is well-understood as to its genetic cause and its effective treatment. I think identification and education of people who have "trait" is really where the money is at.
Q:What is the diagnosis?
A: The diagnosis is not difficult most often because we know the person has the disorder so the patient and the doctor know what the problem is and what needs to be done. All babies, when they are born, have a test to determine if the baby have trait or the disease, so we know from the
beginning what to expect. However, if there were any doubt, you could look at a blood smear under the microscope and see blood cells that look like crescents (sickles). To confirm this, a hemoglobin electrophoresis would be done to confirm the hemoglobin type. Hemoglobin A is normal, F is in babies and S is in sickle cell.