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Sickle Cell Disease

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Alana Turco

on 24 October 2013

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Transcript of Sickle Cell Disease

Sickle Cell Disease
Is sickle cell disease a dominant or recessive trait?
Humans inherit one set of chromosomes from their father and another set from their mother. Dominant traits require that only one parent pass on the gene for the trait. Recessive traits require both parents to pass on the genes. Sickle cell disease is a recessive trait. People with one sickle cell gene are said to be carriers.

Genetic Basis of Sickle Cell Disease
Sickle cell anemia is an inherited disease. People who have the disease inherit two genes for sickle hemoglobin—one from each parent.

Sickle hemoglobin causes red blood cells to develop a sickle, or crescent, shape. As stated before, Sickle cells are stiff and sticky and they tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.

People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent have sickle cell trait. Their bodies make both sickle hemoglobin and normal hemoglobin.

People who have sickle cell trait usually have few, if any, symptoms and lead normal lives. However, some people may have medical complications.

People who have sickle cell trait can pass the sickle hemoglobin gene to their children. The following image shows an example of an inheritance pattern for sickle cell trait.
Is the disorder a result of too many or too few chromosomes?
Sickle Cell Disease is neither. People with sickle cell disease have the same number of chromosomes and even the same number of genes as those who don't have the disease. The difference is a 'change' in one of the genes.
Symptoms and characteristics
The signs and symptoms of sickle cell anemia vary. Some people have mild symptoms. Others have very severe symptoms and often are hospitalized for treatment. The most common signs and symptoms are linked to anemia and pain. Other signs and symptoms are linked to the disease's complications.
The symptoms include:
- Shortness of breath
- Dizziness
- Headaches
- Coldness in the hands and feet
- Paler than normal skin or mucous membranes (the tissue that lines your nose, mouth, and other organs and body cavities)
- Jaundice (a yellowish color of the skin or whites of the eyes)

Characteristic features of this disorder include a low number of red blood cells, repeated infections, and periodic episodes of pain.
What is Sickle Cell Disease?
Sickle Cell Disease is a serious disorder in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a crescent.

Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels, but Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.

Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S. Sickle hemoglobin is what causes the cells to develop a sickle, or crescent, shape.

Living with Sickle Cell Disease
- Follow a healthy diet. A healthy diet includes a variety of vegetables and fruits. It also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, eggs, poultry without skin, seafood, nuts, seeds, beans, and peas.

- A healthy diet is low in sodium (salt), added sugars, solid fats, and refined grains.

- Your body needs regular physical activity to stay healthy, and drink lots of water

-You also should get enough sleep and rest.

- Avoid smoking and drinking alcohol
Living with Sickle Cell Disease
With good health care, many people who have sickle cell anemia can live productive lives. They also can have reasonably good health much of the time and live longer today than in the past. Many people who have sickle cell disease now live into their forties or fifties, or longer.

If you have sickle cell anemia, it's important to:
- Adopt or maintain a healthy lifestyle
- Take steps to prevent and control complications
- Learn ways to cope with pain

Treatments for Sickle Cell Disease
Sickle cell anemia has no widely available cure. However, treatments can help relieve symptoms and treat complications. The goals of treating sickle cell anemia are to relieve pain; prevent infections, organ damage, and strokes; and control complications (if they occur). Over the past 100 years, doctors have learned a great deal about sickle cell anemia. They know its causes, how it affects the body, and how to treat many of its complications.

Sickle cell anemia varies from person to person. Some people who have the disease have chronic (long-term) pain or fatigue (tiredness). However, with proper care and treatment, many people who have the disease can have improved quality of life and reasonable health much of the time.

Complications of Sickle Cell Disease
Sickle cell crises can affect many parts of the body and cause many complications.
- Hand-Foot Syndrome
- Splenic Crisis
- Infections
- Acute Chest Syndrome
- Pulmonary Hypertension
- Stroke
- Eye Problems
- Priapism
- Gallstones
- Ulcers on the Legs
- Multiple Organ Failure
Example of an Inheritance Pattern for Sickle Cell Trait
The image shows how sickle hemoglobin genes are inherited. A person inherits two hemoglobin genes—one from each parent. A normal gene will make normal hemoglobin (A). A sickle hemoglobin gene will make abnormal hemoglobin (S).

When both parents have a normal gene and an abnormal gene, each child has a 25 percent chance of inheriting two normal genes; a 50 percent chance of inheriting one normal gene and one abnormal gene; and a 25 percent chance of inheriting two abnormal genes.
Date Accessed: 29/9/2013

Date Accessed: 2/10/2013

Date Accessed: 20/10/2013
Is Sickle Cell Disease a result of Mutation?
Yes, The disease is caused by a mutated version of the gene that helps make hemoglobin - a protein that carries oxygen in red blood cells.
Punnett Square
Genetic Tests for Sickle Cell Disease
Sickle cell disease can be genetically tested and it can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother's womb to look for the sickle cell gene. If you or your partner has been diagnosed with sickle cell anemia or sickle cell trait, you can ask your doctor about whether you should consider this screening.

Sickle cell disease is present at birth, but many infants don't show any signs until after 4 months of age. Among children and adults with sickle cell disease, the average age at death is 42 years for males and 48 years for females.
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