Sickle Cell Disease

By- Quentin McCarty

1. Name of genetic disorder. What other names are there for this disorder?

Sickle Cell Anemia ,Sickle Cell Disease , Hemoglobin SS disease.

2. What causes the disorder?

Sickle cell disease may be an inherited disease. People that have sickle cell sickness, it is a gene that is mutated, are born with 2 sickle cell genes, one from each parent. If one normal hemoglobin gene and one sickle cell gene are inherited, a person will have sickle cell trait. People who have sickle cell trait don't develop sickle cell sickness, but they are “carriers” that will pass the abnormal gene on to their kids.

3. What gene or chromosome is affected by this disorder?

Gene hemoglobin and chromosome 11 are affected by the disease

4. Are there prenatal tests for this disorder?

They will collect some of your amniotic fluid and Chorionic villus sampling is done

5. What are the symptoms?

In infants, symptoms do not usually appear till late in the baby's initial year.

Fever

Swelling of the hands and feet

Pain in the chest, abdomen, limbs, and joints

Nosebleeds


Children symptoms include

Fatigue and shortness of breath

Irritability

Jaundice


Adolescence or Adulthood. They also include all of the other symptoms

Delayed puberty

Severe joint pain

Progressive anemia

Leg sores

Gum disease

Vision problems

All of the ages can get these

Sickle Cell Crisis- Pain that can be as bad as cancer pain and they also can last long time periods. They can cause a person to be in the hospital for up to months

6. What population is affected?

In the U.S there is an estimated amount of that 100,000 people have this disease.

7. Can anyone be a candidate for the disorder?

Yes anyone with a parent with this disease or if both parents are carriers of this disease.

8. How is it inherited?

This condition is inherited in an autosomal recessive pattern, which means that each copies of the gene in every cell have mutations. The parents of the individual with an autosomal recessive gene both parents carry one copy of the mutated gene, but they generally do not show signs and symptoms of the condition.

9. What kind of medical assistance will the affected child need?

They will have to see a doctor for pains and you have to take them to Er if they have bad pains they also will need have to take tons of meds for pains.

10. Will further assistance be needed, as the child grows older?

They are going to have to go to the doctor and have regular check ups.

11. What is the long-term outlook for the child?

They might life until 40 years old and some have lived longer . They will have more and worst pains when they get older.

12. Are there any treatments or cures?

Treatment goals for sickle cell disease aim to relieve pain, prevent infections.

Bone marrow transplantation is the only potential cure, but it is used in only a small number of people due to not being able to find a match. Blood transfusions are used to help stop stroke and crisis’s

Drug treatments for sickle cell disease include:

  • Antibiotics, usually penicillin, are commonly given to infants and young children, as well as adults, to help prevent infections.

  • Pain relief medications

  • Hydroxyurea is prescribed for patients with moderate-to-severe sickle cell disease to help reduce the frequency of pain episodes and acute chest syndrome.

13. Could this disorder have been prevented?

No this disease can not be prevented due to because you're born with it and it is super hard to true to stop it.

14. Can this individual have children in the future?

Yes they can but they are going to more of a change of a miscarriage or they might due during birth

15. Will those children be affected?

If the parents are only carriers they might have kids that either have the Trait of the disease but they might not have anything at all.

16. What is the current status of research on this disorder?

They are still trying to find a cure but the best options is the stem cell transplant. In 2014, 150 - 200 people have had a transplant with an success rate of 90 to 95%.

17. Is there a cure/new treatment coming soon?

So far there's only one way to that will have a chance to cure this disease and that is a stem cell transplant. Stem cell transplant are super hard because most people that need one are way to old to do it and another why this is hard is because the person that needs the new transplant might not have a good match's in genetic metrical

Work Cited

Dr.A.Olujohungbe, and Dr.A.YARDUMIAN. "New Treatment Strategies For Sickle Cell Disease." Sickle Cell Society. New England Journal of Medicine, n.d. Web. 05 May 2016.

Gibbison, Garry. "What Is Sickle Cell Disease?" NHLBI. Natioal Hear, Lung and Blood Institute, 12 June 2015. Web. 05 May 2016.

Orkin, Sturat H. "Research News: Reversing Sickle Cell Anemia by Turning On Fetal Hemoglobin | Howard Hughes Medical Institute (HHMI)." HHMI.org. HHMI, 13 Oct. 2011. Web. 05 May 2016.

"Sickle Cell Disease." Genetics Home Reference. National Library of Medicine, 3 May 2016. Web. 05 May 2016.

"Sickle Cell Disease in Children." Sickle Cell Disease in Children. Stanford, n.d. Web. 05 May 2016.

Simon, Harvey. "Sickle Cell Disease." University of Maryland Medical Center. Harvard Medical School, 14 Mar. 2013. Web. 05 May 2016.

Staff, Healthwise. "Sickle Cell Disease - Sickle Cell Disease Exams and Tests: Healthwise Medical Information on EMedicineHealth." EMedicineHealth. MD - Internal Medicine, 1 Oct. 2012. Web. 05 May 2016.

"What Causes Sickle Cell? :: DNA Learning Center." DNALC Blogs. DNA Learning Center, 2001. Web. 05 May 2016.