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By: scardo and dan

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Sickle cell is more common in ethnic groups

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Sickle cell is more common in ethnic groups

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1 in 12 African Americans carry the disease.

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According to Annals of Saudi medicine more males were admitted then female patients

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NORD (National Organization for Rare Disorders)

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Treatment
Prevention is the best treatment. Patient and family education, medicines such as hydroxycarbamide, avoiding triggers, early intervention, and testing to pick up developing complications early so they can be treated before they are severe can significantly improve outcomes.

While very few patients with SCD have the opportunity to be cured, early referral of newborns to specialty centers can provide education and resources that help control symptoms and dramatically improve quality of life for patients. People with SCD should have regular medical checkups where education on preventing complications has a tremendous benefit on health. Teaching families about how to carefully monitor children for fevers while at home, giving low dose penicillin and immunizations, and assuring families have the information and ability to reach a hospital when ill dramatically decreases severe infections and death. Many simple lifestyle activities can be done to support health and minimize pain and other complications. These include remaining hydrated, not getting too hot or cold, getting exercise, deep breathing, not getting fatigued and avoiding trauma.

It is important to try to avoid sickle cell pain as mentioned above. Once pain occurs, it is important to use many approaches to treat the severe pain in SCD, not just medications. Reversing triggers of pain is key, thus hydration, remaining warm, walking around and deep breathing are very important. Distraction can be a huge help, as are approaches such as massage, acupuncture, and hypnosis. Pain-relieving medications, such as non-steroidal anti-inflammatory agents and opiate analgesics may be administered during painful episodes.

Blood transfusions can be used for many reasons such as very severe anemia, preparing for surgery, and to reduce the risk of, or treat stroke. In some people, surgery may be necessary because of damage to specific organs such as gall bladder surgery (cholecystectomy) to remove gallstones.

Stem cell transplant can provide a cure for patients but the chance of success and potential risks vary depend on many factors.

Hydroxycarbamide (hydroxyurea) has been approved by the Food and Drug Administration (FDA) for the treatment of SCD and is recommended for most patients with the S/S and sickle beta-zero thalassemia forms of SCD. It should be offered to children with these forms by 9 months of age. Hydroxyurea helps stimulate the body to make fetal hemoglobin, the type of hemoglobin that newborns have and lowers white blood cells that can contribute to slowing blood flow. As a result, hydroxycarbamide can decrease pain, improve the anemia, decrease hospitalizations and lung problems, and increase lifespan.

In 2017, the FDA approved Endari (L-glutamine) for patients age five years and older with SCD to reduce severe complications associated with this condition. Endari is manufactured by Emmaus Medical Inc.

Folic acid is used to assure the body can make enough red blood cells.

Genetic counseling is recommended for affected individuals and their families.

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Sickle Cell Disease - NORD (National Organization for Rare Disorders)

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Treatment Prevention is the best treatment. Patient and family education, medicines such as hydroxycarbamide, avoiding triggers, early intervention, and testing to pick up developing complications early so they can be treated before they are severe can significantly improve outcomes.

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"The signs and symptoms of SCD vary from patient to patient, and some patients have more mild symptoms while others may have more severe symptoms requiring hospitalization". "and also a diagnosis is easily confirmed with simple blood tests."

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A person who inherits the sickle cell gene from only one parent willnot develop the disease, but will have something called sickle cell trait sickle cell trait .

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The sickle cell mutation is non conservative missense  by the the six amino acid which is a valine  and not glutamic acid

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sickle cell anemia is found In 70,000 to 80,000 Americans

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Now being a carrier of sickle cell will not have any problem unless exposed to extreme conditions.
Some of the symptoms is decreasing the severity of Pfm(plasmodium falciparum malaria)  and It can get stuck in the bones of hands and feet at infancy and when your older it can cause pain in other places like the spleen which will cause splenic sequestration  which will cause a encapsulated bacteria  which can cause many things.

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It is autosomal recessive

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https://www.cdc.gov/ncbddd/sicklecell/stories.html

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cite's
https://rarediseases.org/rare-diseases/sickle-cell-disease/

https://rarediseases.org/rare-diseases/sickle-cell-disease/

https://kidshealth.org/en/teens/sickle-cell-anemia.html

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Sickle cell is Caused by defective hemoglobin

The beta globein become misshapen