Sickle Cell Anemia

Source:  Sickle Cell Anemia    Tag:  both sickle cell anemia and hemophilia

 

Sickle Cell Anemia

General facts
Red blood cells, multiple sickle cells - Red blood cells, which are normally shaped like a disc, take on a sickle or crescent shape when this disease is present.
- Before modern medicine and technology, people with sickle cell anemia died between ages 20-40 years old.
Affects on the body
- When people have this disease, a variety of areas in their body shut down or weaken. In addition, many areas get infected in the body.
- It affects the vision, the gallbladder, the bones, lungs, the urinary track, and many other places.
Symptoms

- Some of the common symptoms include fatigue, paleness, a rapid heart rate, yellowing of skin and teeth, and shortness of breath. Symptoms aren't seen until after the age of 4 months.
Cause of disorder
- Sickle cell anemia is caused by a mutated type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen.
- There is a genetic mutation that occurs in order for the blood cell to look like sickles.
How the disorder is inherited
- This disorder is a sex-linked disease.

- Sickle Cell Anemia is located on chromosome 11. This means that the 11th chromosome out of the 23 pairs has this particular disease on it.

- This is a recessive trait. If both parents are carriers of the disease, but neither are affected by it, they have a 25% chance of having a child that suffers from the condition. 50% of their children won't have it, but will carry it. The other 25% of their children will neither have it, nor will they be affected by it.
 
How the disorder is treated
- Blood and marrow stem cell transplants are the only known cure. It doesn't cure many patients, but there have been a few victims that have lived because of it.

- Genetic therapy for this defect is being explored, but none has been found yet.

How the disorder is diagnosed
- There is a very generic test that can be taken in order to discover whether someone has it. A simple blood test has to occur if someone would know that they had the disease. It is early to take the test sooner than later.

How many and what type of people are likely to have the disorder
- Between 70,000 and 100,000 people around the world have the Sickle disease.

- There are certian ethnic groups that are prone to the disease.
- This includes:
     * Anyone with African decent
     * Hispanic decent
     * Middle Eastern, Asian, Indian, and Mediterranean decent