Sickle Cell Anemia: Causes, Symptoms, and Advances in Medical Approaches By Sierra Raphael

 



Abstract

This paper examines the genetic causes, complications, symptoms, and medical treatments of

Sickle Cell Anemia. To further the advancement in the fight against this disease, the scope of

understanding has to be broadened through reexamining our existing treatments as well as

progress made. Sickle Cell Anemia is a disease that carries stigma fueled by misconceptions

about its effects. Furthermore, evaluating and approaching the topic with the nuance needed to

allow for productive collaboration is the goal of this paper.


Introduction

Sickle Cell Anemia (SCA) is one of the most prevalent blood disorders inherited in the world,

touching the lives of millions of people, but predominantly those of African, South American,

Middle Eastern, Mediterranean, and South Asian origin. Resulting from a mutation in the HBB

gene (which encodes part of hemoglobin), the signature of this disease is the abnormal form of

hemoglobin (hemoglobin S), with molecules that fuse to form sickle-shaped red blood cells,

which are hallmarks of the disease. As the HBB gene is inherited from each parent, it is known

as an autosomal recessive blood disorder.


Causes

Expanding more on causes requires an expansion of genetic education. The condition is

precipitated by a point mutation in the HBB gene that encodes beta-globin (a component of

hemoglobin). A child must inherit two copies of the mutated HBB gene to have the disease; in

the case of inheriting one, it displays a trait of codominance, so carriers produce both (HbA) and

(HbS), remaining asymptomatic until issues like extreme stress, dehydration, or high altitude.

Furthermore, when both parents are carriers, the child has a 25% chance of having sickle cell

anemia, a 50% chance of carrying the trait, and a 25% chance of having no mutation (CDC).


Scientists also believe the distribution among populations is due to natural selection, with initial

theories behind the manifestation of this disorder being a belief that it’s a survival advantage

against malaria (CDC).

Symptoms

The symptoms of Sickle Cell Anemia include chronic anemia, which occurs because sickle red

blood cells split faster than regular red blood cells. This leads to chronic fatigue, weakness,

dizziness, difficulty breathing/shortness of breath, and pale skin. Pain crises are also prevalent,

many individuals experience such do to sickle cells blocking blood vessels. This causes severe

pain in the bones, abdomen, chest, or joints and can last up to hours or days. Other symptoms

may include swelling in the extremities, delayed growth and puberty in children, and vision

problems. Serious complications may include acute chest syndrome, stroke, kidney disease,

chronic pain, and pulmonary hypertension.

Advances in Medical Care

Over the course of the 21st century, life changing advancements have been made in efforts to

combat the disorder. Newborn screenings allow the disease to be diagnosed post birth, in

conjunction with routine vaccinations, daily antibiotics, and regular check ups it has led to a

reduction in the risk of life-threatening infections. Additionally, Hydroxyurea has worked as an

extremely effective treatment because it increases fetal hemoglobin produced and reduces the

amount of sickled red blood cells. Medications like Crizanlizumab, Voxelotor, and L-glutamine

have also been used to help reduce chronic pain episodes. Blood transfusions are also a rather

key part of treatment however recent breakthroughs with gene therapy are providing patients

with optimism. Though hematopoietic stem cell transplantation remains the established cure for

sickle cell anemia, just recently a man by the name of Daniel Cressy in Louisiana was

functionally cured of SCA. Cressy was treated with CRISPR-based gene therapy known as

Casgevy. Doctors were able to edit his own stem cells to further fetal hemoglobin production

which prevented sickling. All in all, the 21st century has brought change for patients of Sickle

Cell Anemia.


Conclusion

In conclusion, Sickle Cell Anemia is a serious blood disorder that affects millions of lives

worldwide. Caused by a mutation in the HBB gene, sickled cells have a decreased ability to

transport oxygen. Though it is still widely prevalent today advancements have been made in

early diagnosis, medications, and gene therapy to improve patient outcome and quality of life.

The continued investment in medical research ensures that future generations will reap the

benefits of scientific progress. Overall increasing our literacy on the topic of Sickle Cell Anemia

will dissolve stigma around the topic and shift the focus on how we support our scientists,

doctors, and our community


Sources


Public Health Assessment of Genetic Susceptibility to Infectious Diseases: Malaria, TB and HIV

(2024)

https://archive.cdc.gov/#/details?url=https://www.cdc.gov/genomics/resources/books/21stcent/c

hap10.htm

Centers for Disease Control and Prevention. (2025). About sickle cell disease.

https://www.cdc.gov/sickle-cell/about/index.html

Centers for Disease Control and Prevention. (2024). Sickle cell trait.

https://www.cdc.gov/sickle-cell/sickle-cell-trait/index.html

Mayo Clinic. (2024). Sickle cell anemia.

https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355

876

MedlinePlus. (2024). Sickle cell disease. U.S. National Library of Medicine.

https://medlineplus.gov/sicklecelldisease.html

National Heart, Lung, and Blood Institute. (2024). Sickle cell disease.

https://www.nhlbi.nih.gov/health/sickle-cell-disease

U.S. Food and Drug Administration. (2023). FDA approves first gene therapies to treat patients

with sickle cell disease.


https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapies-treat-

patients-sickle-cell-disease


National Institutes of Health. (2023). NIH-supported gene therapy for sickle cell disease.

https://www.nih.gov/news-events

People. (2025). Man becomes first in Louisiana to be functionally cured of sickle cell disease.


https://people.com/man-becomes-1st-in-louisiana-to-be-functionally-cured-of-sickle-cell-disease-

exclusive-12007140

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