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Home » Now Know All about Sickle Cell Disease: Cause, Symptoms, Diagnosis, Treatment
Child CareHealth Problems

Now Know All about Sickle Cell Disease: Cause, Symptoms, Diagnosis, Treatment

Staff
Last updated: September 23, 2024 6:47 am
By Staff
8 Min Read
Sickle Cell Disease

Sickle Cell Disease (SCD) is a group of inherited blood disorders characterized by the production of abnormal hemoglobin, called hemoglobin S, which causes red blood cells to become rigid, sticky, and crescent-shaped (sickle-shaped). These misshapen cells can block blood flow, leading to painful episodes, organ damage, and increased risk of infections. Sickle Cell Disease is most common in individuals of African, Mediterranean, Middle Eastern, and Indian descent, and it affects millions of people globally. (Source)

Contents
What is Sickle Cell Disease?How is Sickle Cell Disease Caused?History and Science of Sickle Cell DiseaseRisk Factors for Sickle Cell DiseaseTreatment for Sickle Cell DiseaseCan Sickle Cell Disease Be Prevented?Is Sickle Cell Disease Hereditary?Can Sickle Cell Disease Be Cured?Conclusion

Also, read: Now Know All about Cystic Fibrosis: Cause, Symptoms, Diagnosis, Treatment

What is Sickle Cell Disease?

It primarily affects the red blood cells, which carry oxygen throughout the body. In people with SCD, the abnormal hemoglobin (hemoglobin S) causes the red blood cells to deform into a sickle or crescent shape. Unlike normal, flexible red blood cells, these sickle cells are rigid and prone to clumping together, leading to blockages in small blood vessels. This obstructs blood flow and oxygen delivery to tissues, causing severe pain and potential complications in organs like the lungs, kidneys, and brain. (Source)

How is Sickle Cell Disease Caused?

It is caused by mutations in the HBB gene on chromosome 11, which codes for the beta-globin subunit of hemoglobin. The most common mutation involves a single nucleotide substitution (GAG to GTG) that replaces the amino acid glutamic acid with valine at the sixth position of the beta-globin chain. This mutation leads to the production of abnormal hemoglobin (hemoglobin S).

SCD is inherited in an autosomal recessive pattern. Individuals must inherit two copies of the mutated HBB gene—one from each parent—to have the disease. People who inherit only one copy of the gene are said to have sickle cell trait and generally do not show symptoms of the disease, although they can pass the gene on to their offspring. (Source)

History and Science of Sickle Cell Disease

It was first described in medical literature in 1910 by Dr. James Herrick, who identified the “peculiar, elongated, sickle-shaped” red blood cells in a patient with anemia. In 1949, Dr. Linus Pauling, a prominent scientist, identified the molecular basis of the disease, calling it a “molecular disease.” This discovery linked the disorder to hemoglobin abnormalities and laid the foundation for modern genetic research.

SCD is believed to have evolved as a protective response to malaria in regions where the disease is endemic. Individuals with sickle cell trait have partial resistance to malaria, which explains the higher prevalence of the gene in Africa and other malaria-prone regions. (Source)

Risk Factors for Sickle Cell Disease

The primary risk factor for developing it is genetics. A child must inherit two copies of the abnormal hemoglobin gene, one from each parent, to have the disease. Other risk factors include:

  • Family History: A family history of SCD increases the likelihood of inheriting the condition.
  • Ethnicity: SCD is most common in individuals of African, Mediterranean, Middle Eastern, Indian, and Caribbean descent, where the sickle cell trait is more prevalent.
  • Geography: The mutation causing SCD is more frequent in areas where malaria is or was historically prevalent, as the sickle cell trait offers some protection against malaria. (Source)

Treatment for Sickle Cell Disease

While there is no universal cure for Sickle Cell Disease, treatments focus on managing symptoms, reducing complications, and improving quality of life. Common treatments include:

  1. Medications:
    • Hydroxyurea: This medication helps increase the production of fetal hemoglobin, which can reduce the frequency of pain episodes and the need for blood transfusions.
    • Pain Relievers: Over-the-counter or prescription pain medications are used to manage pain crises.
    • Antibiotics: Children with SCD are often given daily antibiotics, such as penicillin, to prevent infections like pneumonia, which are common in people with the disease.
    • Blood Transfusions: Regular blood transfusions can help treat anemia and reduce the risk of stroke by increasing the number of healthy red blood cells.
  2. Bone Marrow or Stem Cell Transplant:
    • A bone marrow or stem cell transplant is currently the only potential cure for SCD. This procedure replaces the defective bone marrow with healthy donor marrow. However, transplants are not widely available due to the risk of complications and difficulty finding suitable donors.
  3. Gene Therapy:
    • Gene therapy is an emerging treatment that holds promise for SCD. Researchers are working on techniques to edit the patient’s DNA to correct the genetic mutation responsible for the disease. (Source)

Can Sickle Cell Disease Be Prevented?

Sickle Cell Disease cannot be prevented since it is a genetic condition. However, genetic counseling and prenatal genetic testing can help parents assess the risk of passing SCD to their children. In vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD) may also be an option for families wishing to prevent the inheritance of the disease. (Source)

Is Sickle Cell Disease Hereditary?

Yes, Sickle Cell Disease is a hereditary condition. It is passed down in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the HBB gene for their child to inherit SCD. Carriers of one mutated gene (those with sickle cell trait) do not typically show symptoms but can pass the gene to their offspring.

Also, watch web stories: 7 Facts You Need to Know About Childhood Osteosarcoma

Can Sickle Cell Disease Be Cured?

While there is no widespread cure for Sickle Cell Disease, a bone marrow or stem cell transplant offers the possibility of a cure for some individuals. However, this procedure is risky and requires a suitable donor, making it an option for only a small number of patients. Gene therapy is also being studied as a potential cure, with clinical trials showing promising results.

For most individuals, treatment focuses on symptom management, preventing complications, and improving quality of life.

Conclusion

Sickle Cell Disease is a serious genetic disorder that affects millions of people worldwide, particularly those of African descent. Although there is no universal cure, treatments such as hydroxyurea, blood transfusions, and pain management help individuals with SCD live longer, healthier lives. Genetic counseling and prenatal testing can help families understand the risks of passing the disease to future generations. Advances in gene therapy and bone marrow transplants offer hope for more effective treatments and potential cures in the future.

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