Sickle Cell Anemia By: Daniel Lee, Matt Milan, and Min-ki Kim

What is Sickle Cell Anemia? 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. Because of its shape, it can also block the blood vessels causing lots of pain, and damage to tissues and organs. Most of African, and African- Americans are affected by this disease.

Inheritance Type of genetic disorder: autosomal recessive Type of genetic disorder: autosomal recessive Sickle cell anemia is “active” when it is inherited from both of your parents. Sickle cell anemia is “active” when it is inherited from both of your parents. If the child got one sickle cell trait from a parent, then the child is a carrier of sickle cell disease. If the child got one sickle cell trait from a parent, then the child is a carrier of sickle cell disease. This child will have little or no symptoms whatsoever. This child will have little or no symptoms whatsoever.

Diagnosis When an abnormal sickle- shaped cell is spotted under a microscope, than it is suggested that the person has a sickle cell disease. When an abnormal sickle- shaped cell is spotted under a microscope, than it is suggested that the person has a sickle cell disease. Next, hemoglobin electrophoresis test is used to see the type of hemoglobin in the blood. Next, hemoglobin electrophoresis test is used to see the type of hemoglobin in the blood. It can be tested to see if an unborn baby is diagnosed. They collect a sample of DNA from the unborn baby. It can be tested to see if an unborn baby is diagnosed. They collect a sample of DNA from the unborn baby.

Symptoms Fatigue and Anemia Pain Crisis Dactylitis (swelling and inflammation of feet or hands) Arthritis Bacterial infections Splenic Sequestration (sudden pooling of blood in spleen) Lung and heart injury Leg ulcers Eye damage Others Example of Dactylitis

Pedigree Circles= males Circles= males Squares= females Squares= females Shaded= diagnosed with sickle cell Shaded= diagnosed with sickle cell Diagonal lines= sickle cell trait carrier Diagonal lines= sickle cell trait carrier

Treatment, and life expectancy Treatment: There is NO CURE! There is NO CURE! However, the doctors are trying their best to reduce the patients’ pains. However, the doctors are trying their best to reduce the patients’ pains. Even though they don’t have a cure, they have treatment for the symptoms. Even though they don’t have a cure, they have treatment for the symptoms. Life expectancy: The life expectancy are reduced. The life expectancy are reduced. Most do not survive their infancy or their childhood. Most do not survive their infancy or their childhood. However, now with health care, males can live up to 42 and females to 48. However, now with health care, males can live up to 42 and females to 48.

Genetic Counseling, and Research Genetic Counseling: There is a group of people who provide information for people with sickle cell traits so that they will make better decision about having a child that might have sickle cell disease or at least carry it. There is a group of people who provide information for people with sickle cell traits so that they will make better decision about having a child that might have sickle cell disease or at least carry it. They will help determine the probabilities of their child having the disease. They will help determine the probabilities of their child having the disease. Current Research: According to current research are being done to find a way to “turn off” the gene that causes the sickle cell, or “perhaps activate” any genes that may help to prevent the formation of sickle cells.

Interview We interviewed Matt’s uncle. We interviewed Matt’s uncle. Q: What type of genetic disorder is it? Q: What type of genetic disorder is it? A: A: Autosomal recessive disorder. Q: How is it inherited? Q: How is it inherited? A: 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 Q: What is the life expectancy A: A: Life expectancy is decreased. Median age of death in males is age 42, age 48 for women. Q: What are the symptoms? Q: What are the symptoms? A: A: Symptoms are anemia (weakness, shortness of breath); jaundice (yellow skin color); bone pain, back or abdominal pain, pneumonia, stroke, skin ulcers.

Interview (continued…) Q: Is there any treatment? Q: Is there any treatment? A 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? Q: What current research is going on about this disease? A: 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.

Interview (continued…) Q:What is the diagnosis? Q: What is the diagnosis? A: 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.

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