Treament, Is there a real cure for this disease???

Sickle cell has no cure. Even doe it have different treatments can help relieve pain; prevent infections, eye damage, and strokes; and control complications.

 

Future and actually treatments...

Blood and marrow stem cell transplant it may offer a cure on small number of people.

stem cells transplant must used a matched donor. Witch minimize the number of people thar can find a donor.

The process “is risky and can lead to serious side effects or even death. Because of this, only some people can or should have this procedure.”

“Researchers continue to look for sources of bone marrow stem cells—for example, blood from babies' umbilical cords”.

“Gene therapy is being studied…... Researchers want to know whether a normal gene can be put into the bone marrow stem cells of a person who has sickle cell anemia. This would cause the body to make normal red blood cells.”

“Researchers are studying several medicines for sickle cell anemia. They include: 

• Nitric oxide. This medicine may make sickle cells less sticky and keep blood vessels open. People who have sickle cell anemia have low levels of nitric oxide in their blood.

Decitabine. Like hydroxyurea, this medicine may reduce painful sickle cell crises. Decitabine may be used instead of hydroxyurea or added to hydroxyurea

(National heart lung and blood institude, 2010)

http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_Treatments.html

How is it detected and is it possible to detect on unborn child?

“On a blood test for sickle cell disease on newborns……..If the test shows the presence of sickle hemoglobin, a second blood test is performed to confirm the diagnosis. These tests also tell whether the child carries the sickle cell trait.”

If parents take the blood test they can be able to know if the unborn child will have de disease. 

(American Sickle Cell Anemia Association, 2010) 

People with sickle cell disease

How many people have sickle cell disease??


Sickle cell disease is a global health problem. In the United States it is estimated that over 70,000 people have sickle cell disease. About 1,000 babies are born with the disease each year in America.(2005 Sickle Cell Disease Association of America, Inc.)


How long does a person with sickle cell disease live??


In fact, in the past 30 years, the life expectancy of people with sickle cell anemia has increased. The average life expectancy in America has improved. It is now in the mid 40 years of age range. (2005 Sickle Cell Disease Association of America, Inc.)


Can people with sickle cell disease live a productive life??
Yes. But like all patients with chronic disease, sickle cell patients are best managed in a comprehensive multi-disciplinary program of care and a strong extended support system having into account that they have very low defense r that they could get easierly otre kind of diseases or medical problems as concequences of the sickle cell disease.  (2005 Sickle Cell Disease Association of America, Inc.)


Are people of africa descent only group afected???

No. It is also present in Portuguese, Spanish, French Corsicans, Sardinians, Sicilians, mainland Italians, Greeks, Turks and Cypriots. Sickle cell disease also appears in Middle Eastern countries and Asia.(2005 Sickle Cell Disease Association of America, Inc.)

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.( Last Updated: May 5, 2005, Jennifer Bownas )

http://www.sicklecelldisease.org/about_scd/faqs.phtml#african
http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml

What are the signs and symptoms of sickle cell disease??

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.

What medical are caused by sickle cell disease???

Consequences

Infections. In general, both children and adults with sickle cell anemia are more vulnerable to infections and have a harder time fighting them off. This is the result of spleen damage from sickled red cells, thus preventing the spleen from destroying bacteria in the blood. Infants and young children, especially, are susceptible to bacterial infections that can kill them in as little as 9 hours from onset of fever. Pneumococcal infections used to be the principal cause of death in children with sickle cell anemia until physicians began routinely giving penicillin on a preventive basis to those who are diagnosed at birth or in early infancy. 

Stroke. Defective hemoglobin damages the walls of red blood cells, causing them to stick to blood vessel walls. The resulting narrowed or blocked small blood vessels in the brain can lead to serious, life-threatening strokes, primarily in children. 

Acute chest syndrome. Similar to pneumonia, this life-threatening complication is caused by infection or trapped sickled cells in the lung. It is characterized by chest pain, fever, and an abnormal chest X ray.(genomics.energy.gov, Jeniffer Bownas, May 5, 2005)

The blockage of blood flow caused by sickled cells also causes damage to most organs including the spleen, kidneys and liver.(The sickle cell disease association of America, In, 2005)

http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml

http://www.sicklecelldisease.org/about_scd/faqs.phtml#top

What is sickle cell trait??

A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. A blood test can show if you have the trait or anemia.

Sickle Cell trait (AS) is an inherited condition in which both hemoglobin A and S are produced in the red blood cells, always more A than S. Sickle cell trait is not a type of sickle cell disease. People with sickle cell trait are generally healthy, comprainf with persons with sickle cell disease.

If sickle cell trait is not an illness why are people test?? 



Babies are tested to see if they have sickle cell disease. Teens and adults are tested mainly to see if they can have a baby with the disease.

This is a very polemic question because even if the consequences of sickle cell trait affect directly to the patient bringing many risks that don’t let them develop as usually.

A summary of the risks associated with sickle cell trait is as follows:

1.     Splenic infarction at high altitude, with exercise, or with hypoxemia

2.     Isothenuria with loss of maximal renal concentrating ability

3.     Hematuria secondary to renal papillary necrosis

4.     Fatal exertional heat illness with exercise

5.     Sudden idiopathic death with exercise

6.     Glaucoma or recurrent hyphema following a first episode of hyphema

7.     Bacteruria in women

8.     Bacteruria or pyelonephritis associated with pregnancy

9.     Renal medullary carcinoma in young people (ages 11 to 39 years)

10. Early onset of end stage renal disease from autosomal dominant polycystic kidney disease.

11. Increased risk of pulmonary embolism among older hospitalized patients and adverse outcomes from intrathoracic or open heart surgery remain unresolved areas of controversy. The level of evidence available is suggestive but not convincing for a substantial association with sickle cell trait.
(Howard Universty School of Medicine,Washington, D.C. 20059
revised December 20, 2000)

More information:

http://sickle.bwh.harvard.edu/sickle_trait.html

How is sickle cell anemia inheritated???

Inheritance

Sickle cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color and other physical traits. The types of hemoglobin a person makes in the red blood cells depend upon what hemoglobin genes the person inherits from his or her parents. Like most genes, hemoglobin genes are inherited in two sets…one from each parent.

Examples:

If one parent has Sickle Cell Anemia and the other is Normal, all of the children will have sickle cell trait.

If one parent has Sickle Cell Anemia and the other has Sickle Cell Trait, there is a 50% chance (or 1 out of 2) of having a baby with either sickle cell disease or sickle cell trait with each pregnancy.

When both parents have Sickle Cell Trait, they have a 25% chance (1 of 4) of having a baby with sickle cell disease with each pregnancy.

What does it Cause it?

A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait

Sickle cell anemia is caused by an error in a gene that makes the beta globin chain of hemoglobin. The resultant abnormal hemoglobin (sickle hemoglobin) deforms the red blood cells when they are under low oxygen conditions. Children who inherit 2 copies of the sickle gene, one from each parent, have sickle cell anemia. Children who inherit the sickle gene from only one parent do not have the disease, but will carry the sickle cell trait. Individuals with sickle cell trait generally have no symptoms. About 2 million Americans (or 1 in 12 African-Americans) carry the sickle gene(medicine.net, 2011)

What is Sickle cell anemia???

The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells, which leads to anemia. 

The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.(Medline plus, Jan.11 2011)

Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels.(SCDAA,  2005)

When sickle-shaped cells block small blood vessels, less blood can reach that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease. (medicinenet.com, 2011)


For more information:
http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html

http://www.sicklecelldisease.org/about_scd/index.phtml

http://www.sicklecelldisease.org/about_scd/index.phtml

http://www.medterms.com/script/main/art.asp?articlekey=9368