Sickle+Cell+Anemia+ZW

Sickle Cell Notes • Sickle cell anemia is a blood disorder that affects hemoglobin (pronounced: hee-muh-glow-bin), the protein found in red blood cells (RBCs) that helps carry oxygen throughout the body.

• The word Sickle comes from the shape of the red blood cells after it has inherited abnormal hemoglobin. The red blood cell becomes stiff and sticky. And it turns into a Sickle shape as in the old farm tool. That’s where the name sickle came from. Regular red blood cells look like donuts kind of but just with a scoop instead of a hole.

• Sickle Cells are a direct result of a genetic mishap. It is a genetic disorder so it cannot be passed on like a cold or the flu. This is passed from parent to child because when both parents have a sickle cell gene they may not have it, but they carry it and give it to their child. If only one of the parents have the sickle cell gene then their child will only get the gene and not the disease. But then their child will pass it on to their child.

• Inheritance • Sickle cell anemia is an autosomal recessive genetic disorder caused by a defect in the HBB gene, which codes for hemoglobin. The presence of two defective genes (SS) is needed for sickle cell anemia. If each parent carries one sickle hemoglobin gene (S) and one normal gene (A), each child has a 25% chance of inheriting two defective genes and having sickle cell anemia; a 25% chance of inheriting two normal genes and not having the disease; and a 50% chance of being an unaffected carrier like the parents.

• Incidence • Sickle cell anemia affects millions throughout the world. It is particularly common among people whose ancestors come from sub-Saharan Africa; Spanish-speaking regions (South America, Cuba, Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy. In the Unites States, it affects around 72,000 people, most of whose ancestors come from Africa. The disease occurs in about 1 in every 500 African-American births and 1 in every 1000 to 1400 Hispanic-American births. About 2 million Americans, or 1 in 12 African Americans, carry the sickle cell trait.

• Symptoms • The clinical course of sickle cell anemia does not follow a single pattern; some patients have mild symptoms, and some have very severe symptoms. The basic problem, however, is the same: the sickle-shaped red blood cells tend to get stuck in narrow blood vessels, blocking the flow of blood. This results in the following conditions:

• Hand-foot syndrome. When small blood vessels in hands or feet are blocked, pain and swelling can result, along with fever. This may be the first symptom of sickle cell anemia in infants.

• Fatigue, paleness, and shortness of breath. These are all symptoms of anemia or a shortage of red blood cells.

• Pain that occurs unpredictably in any body organ or joint. A patient may experience pain wherever sickled blood cells block oxygen flow to tissues. The frequency and amount of pain vary. Some patients have painful episodes (also called crises) less than once a year, and some have as many as 15 or more episodes in a year. Sometimes pain lasts only a few hours; sometimes it lasts several weeks. For especially severe ongoing pain, the patient may be hospitalized and treated with painkillers and intravenous fluids. Pain is the principal symptom of sickle cell anemia in both children and adults.

• Eye problems. The retina, the "film" at the back of the eye that receives and processes visual images, can deteriorate when it does not get enough nourishment from circulating red blood cells. Damage to the retina can be serious enough to cause blindness.

• Yellowing of skin and eyes. These are signs of jaundice, resulting from rapid breakdown of red blood cells.

• Delayed growth and puberty in children and often a slight build in adults. The slow rate of growth is caused by a shortage of red blood cells.