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what type of genetic disorder is sickle cell anemia

by Dr. Frederic Flatley MD Published 2 years ago Updated 2 years ago
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Sickle cell disease is a hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes that encode the hemoglobin protein, the disease is inherited as an autosomal recessive trait. The mutation causes the red blood cells to take on an unusual sickle shape.

What type of gene mutation causes sickle cell anemia?

Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. The β-globin gene is found on the short arm of chromosome 11.

How to diagnose and treat sickle cell anemia?

Sickle cell anemia can be diagnosed through a blood test. The blood test check for hemoglobin S – the defective form of hemoglobin make you get sickle cell anemia. Treatments of the disease include antibiotics, blood transfusion and bone marrow transplant, as well as other treatments for complications resulting from sickle cell anemia.

What race is most affected by sickle cell anemia?

What race is most affected by sickle cell anemia? People of African descent, including African-Americans (among whom 1 in 12 carries a sickle cell gene) Hispanic-Americans from Central and South America. People of Middle Eastern, Asian, Indian, and Mediterranean descent.

What are some interesting facts about sickle cell anemia?

Surprising Facts About Sickle Cell Anemia

  • One Of The Most Common Genetic Disorders. Sickle cell anemia is one of the most common genetic disorders in the world today. ...
  • It Can Occur In Any Ethnic Group. ...
  • Sickle Cell And Malaria. ...
  • It’s More Than Just Pain. ...
  • Life Expectancy Has Improved. ...
  • There Is A Cure For It. ...
  • It’s Not Contagious. ...

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Overview

An inherited blood disorder where red blood cells (RBCs) become sickle/crescent shaped. It causes frequent infections, swelling in the hands and legs, pain, severe tiredness, and delayed growth or puberty.
Condition Highlight
Urgent medical attention is usually recommended by healthcare providers
Condition Highlight
Certain types can be dangerous or life threatening
How common is condition?
Rare (Fewer than 200,000 cases per year in US)
Is condition treatable?
Treatments can help manage condition, no known cure
Does diagnosis require lab test or imaging?
Often requires lab test or imaging
Time taken for recovery
Can last several years or be lifelong
Condition Highlight
Family history may increase likelihood
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Symptoms

Causes

Risk Factors

Complications

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Sickle cell anemia is one of a group of inherited disorders known as sickle cell disease. It affects the shape of red blood cells, which carry oxygen to all parts of the body. Red blood cells are usually round and flexible, so they move easily through blood vessels. In sickle cell anemia, some red blood cells are shaped like …
See more on mayoclinic.org

Prevention

  • Signs and symptoms of sickle cell anemia usually appear around 6 months of age. They vary from person to person and may change over time. Signs and symptoms can include: 1. Anemia.Sickle cells break apart easily and die. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells typically die in 10 to 20 days, leaving a shortage of red blood cells (a…
See more on mayoclinic.org

Types of SCD

  • Sickle cell anemia is caused by a change in the gene that tells the body to make the iron-rich compound in red blood cells called hemoglobin. Hemoglobin enables red blood cells to carry oxygen from the lungs throughout the body. The hemoglobin associated with sickle cell anemia causes red blood cells to become rigid, sticky and misshapen. For a child to be affected, both m…
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Sickle Cell Trait

  • For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene. In the United States, sickle cell anemia most commonly affects people of African, Mediterranean and Middle Eastern descent.
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Cause of SCD

  • Sickle cell anemia can lead to a host of complications, including: 1. Stroke.Sickle cells can block blood flow to an area of the brain. Signs of stroke include seizures, weakness or numbness of the arms and legs, sudden speech difficulties, and loss of consciousness. If your child has any of these signs and symptoms, seek medical treatment immediately. A stroke can be fatal. 2. Acute …
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Diagnosis

  • If you carry the sickle cell trait, seeing a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anemia. A genetic counselor can also explain possible treatments, preventive measures and reproductive options.
See more on mayoclinic.org

Complications

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There are several types of SCD. The specific type of SCD a person has depends on the genes they inherited from their parents. People with SCD inherit genes that contain instructions, or code, for abnormal hemoglobin.
See more on cdc.gov

Prevention and Treatment of SCD Complications

  • HbAS
    People who have sickle cell trait(SCT) inherit a hemoglobin “S” gene from one parent and a normal gene (one that codes for hemoglobin “A”) from the other parent. People with SCT usually do not have any of the signs of the disease. However, in rare cases, a person with SCT may develop he…
See more on cdc.gov

Cure

  • SCD is a genetic condition that is present at birth. It is inherited when a child receives two genes—one from each parent—that code for abnormal hemoglobin.
See more on cdc.gov

1.Sickle cell anemia - About the Disease - Genetic and Rare …

Url:https://rarediseases.info.nih.gov/diseases/8614/sickle-cell-anemia/

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2.Sickle cell anemia - Symptoms and causes - Mayo Clinic

Url:https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876

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3.What is Sickle Cell Disease? | CDC

Url:https://www.cdc.gov/ncbddd/sicklecell/facts.html

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Url:https://sickle-cell.com/types

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