Sickle Cell


Description: (sickle cell)
Sickle cell disease is a disorder that affects the red blood cells, which use a protein called hemoglobin to transport oxygen from the lungs to the rest of the body. Normally, red blood cells are round and flexible so they can travel freely through the narrow blood vessels.
The hemoglobin molecule has two parts: an alpha and a beta. Patients with sickle cell disease have a mutation in a gene on chromosome 11 that codes for the beta subunit of the hemoglobin protein. As a result, hemoglobin molecules don't form properly, causing red blood cells to be rigid and have a concave shape (like a sickle used to cut wheat). These irregularly shaped cells get stuck in the blood vessels and are unable to transport oxygen effectively, causing pain and damage to the organs.
Inheritance: Sickle cell disease is inherited in a autosomal receive pattern this means that a child will not inherit the disease unless both parents pass one good copy of the defective gene. People who inherit one good copy of the gene and one mutated copy of the gene they are clinically normal, But can still pass the defective gene down to there children.
Symptoms:
Sickle cell disease prevents oxygen from reaching the spleen, liver, kidneys, lungs, heart, or other organs, causing a lot of damage. Without oxygen, the cells that make up these organs will begin to die. For example, the spleen is often destroyed in these patients resulting in some loss of immune function. As a result, these patients often experience frequent infections. The red blood cells of patients with sickle cell disease don't live as long as healthy red blood cells. As a result, people with this disorder often have low red blood cell counts (anemia), which is why this disease is commonly referred to as sickle cell anemia. When sickle-shaped red blood cells get stuck in blood vessels this can cause episodes of pain called crises. Other symptoms include: delayed growth, strokes, and jaundice (yellowish hue to the skin and eyes because of liver damage).Because of these complications, people with this disorder are likely to have their life span reduced by about 30 years.


Daily Life:

Diagnosis:Most states routinely scan new born for sickle cell disease with a simple blood test
If the disorder is not detected at birth, a blood sample a blood sample can be used in a test called hemoglobin electrophoresis. This test will determine whether a person has sickle or whether he/she is a carrier of the faulty hemoglobin gene
Treatment:
Babies and young children with sickle cell disease must take a daily dose of penicillin to prevent potential deadly infections patients also take folic acid which helps build new red blood cells. Doctors advise people with sickle cell to get plenty of rest and drink lots of water and avoid too much physical activity. Blood transfusion that provides the patients with healthy red blood cells from a donor, idea ling from sibling
Research:
There is research being conducted on sickle cell disease but there is no real cure yet.
Additional Facts:
Males and females have different life spans and this is true for people with sickle cell disease as well. Females have longer average life spans than males.
• A female with Hemoglobin SS disease will live an average of 48 years.
• A male with Hemoglobin SS disease will live an average of 42 years.
• A female with Hemoglobin SC disease will live an average of 68 years.
• A male with Hemoglobin SC disease will live an average of 60 years
St. Jude Children's Research Hospital has one of the largest and most active Sickle Cell Disease Programs in the nation. St. Jude treats approximately 800 children per year with sickle cell disease. St. Jude has several labs, which perform various researches on sickle cell disease. These labs perform basic science and translational research. Basic science involves theoretical research which is conducted in the lab. Translational research brings the research from the lab to the patient.
Punnett Square:
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Pedigree Chart:



Resources:
My resources are http://learn.genetics.utah.edu/units/disorders/http://www.ygyh.org/
Pub Med Healthhttp://dilynshereyeahh.blogspot.com/2009/03/what-is-everyday-life-like-what-is.html