If you or someone you love has been dealing with unexplained pain, extreme tiredness, or repeated health problems, you may be searching for answers. Learning what sickle cell anemia is can help you recognize symptoms and know when medical care is needed.
Sickle cell anemia is an inherited blood disorder in which red blood cells become rigid and crescent-shaped, making it harder for them to carry oxygen and potentially blocking blood flow. At our Beaumont ER, our emergency team can evaluate sudden or severe symptoms and provide prompt care when complications require urgent attention.
What Causes Sickle Cell Disease?
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If you or your child has been diagnosed with sickle cell disease, it is natural to wonder why it developed and whether it could have been prevented. Sickle cell disease is an inherited blood disorder present from birth, caused by abnormal hemoglobin genes passed from parents to a child; the specific genes inherited determine the type and severity of the disease.
Hemoglobin SS Disease
Hemoglobin SS occurs when a person inherits a sickle hemoglobin (HbS) gene from both parents. It is the form commonly called sickle cell anemia and is generally considered one of the more severe forms of sickle cell disease.
Hemoglobin SC Disease
Hemoglobin SC disease develops when a person inherits an HbS gene from one parent and an HbC gene from the other. HbC is another abnormal form of hemoglobin that can contribute to red blood cell changes and sickling.
Hemoglobin S Beta-Zero Thalassemia
HbS beta-zero thalassemia occurs when a person inherits HbS from one parent and a beta-zero thalassemia gene from the other. Because little or no normal beta-globin is produced, this form can resemble hemoglobin SS disease in severity.
Hemoglobin S Beta-Plus Thalassemia
HbS beta-plus thalassemia results from inheriting HbS along with a beta-plus thalassemia gene. Some normal hemoglobin is still produced, so symptoms may be less severe than in HbS beta-zero thalassemia, although complications can still occur.
Hemoglobin SD Disease
Hemoglobin SD disease occurs when a person inherits HbS from one parent and another abnormal hemoglobin variant called HbD from the other. The resulting sickling disorder can cause anemia, pain episodes, and other complications associated with reduced blood flow.
Hemoglobin SE Disease
Hemoglobin SE disease develops when HbS is inherited from one parent and HbE from the other. It is uncommon, and its clinical effects can vary, but some people can still experience anemia and complications related to sickling.
Hemoglobin S-O Arab Disease
Hemoglobin S-O Arab disease occurs when HbS is inherited with another uncommon hemoglobin variant called HbO Arab. This combination can cause significant sickling and may produce complications similar to other forms of sickle cell disease.
Other Hemoglobin Variants
Less common combinations of HbS with other abnormal hemoglobin variants can also cause sickle cell disease. The exact symptoms and severity depend on the specific genes inherited and how much normal hemoglobin the body can produce.
Deadly Sickle Cell Anemia Symptoms
Sickle cell anemia can cause symptoms ranging from chronic anemia and fatigue to sudden, severe complications when sickled cells obstruct blood flow. A pain crisis may cause intense pain in the chest, back, abdomen, arms, legs, or joints, while infection, anemia, or acute chest syndrome can become life-threatening.
Acute chest syndrome is particularly dangerous because it can cause breathing problems and low oxygen levels. In a large prospective study of 3,751 people with sickle cell disease, 1,722 episodes of acute chest syndrome occurred in 939 patients, and severe hypoxia occurred in 18% of adults tested.
- Severe or sudden pain in the chest, abdomen, back, arms, legs, or joints.
- Chronic tiredness and weakness caused by anemia.
- Pale or yellowish skin or yellowing of the whites of the eyes.
- Swelling and painful enlargement of the hands and feet, particularly in young children.
- Shortness of breath or difficulty breathing.
- Fever or chills, which may indicate a serious infection.
- Frequent infections or increased susceptibility to certain infections.
- Headache, dizziness, or difficulty concentrating.
- Delayed growth or puberty in children and teenagers.
- Vision problems caused by reduced blood flow to the eyes.
- Sudden weakness, numbness, confusion, trouble speaking, or difficulty walking, which can indicate a stroke.
- Chest pain, coughing, fever, or worsening breathing difficulty, which can signal acute chest syndrome.
How Sickle Cell Anemia Is Inherited
If you or your child has sickle cell disease, understanding how it is inherited can help explain the diagnosis and the chances of passing the condition to future children. Sickle cell disease is a genetic disorder caused by inheriting specific hemoglobin gene variants from biological parents; inheriting certain combinations of two variants can cause the disease, while inheriting only one sickle hemoglobin gene usually results in sickle cell trait rather than sickle cell disease.
- Both Parents Have Sickle Cell Trait: Each pregnancy has a 25% chance of producing a child with sickle cell disease, a 50% chance of producing a child with sickle cell trait, and a 25% chance of producing a child without the sickle cell gene.
- One Parent Has Sickle Cell Disease and One Has Sickle Cell Trait: The child may inherit the sickle hemoglobin gene from both parents and develop sickle cell disease, or inherit only one copy and have sickle cell trait. The exact risk depends on the specific disease genotype.
- One Parent Has Sickle Cell Trait: The child can inherit the sickle hemoglobin gene from that parent. Whether the child develops sickle cell disease depends on the hemoglobin gene inherited from the other parent.
- Neither Parent Has Sickle Cell Trait Or Disease: A child is generally not expected to inherit sickle cell disease through the usual inheritance pattern, although rare genetic circumstances can require specialist evaluation.
- Sickle Cell Trait Is Not Sickle Cell Disease: People with sickle cell trait have one sickle hemoglobin gene and usually do not have the chronic symptoms of sickle cell disease, but they can pass the gene to their children.
When to Go to the ER for Sickle Cell Anemia
Sickle cell complications can become serious quickly when blood flow is blocked or oxygen delivery is reduced. Do not try to manage potentially life-threatening symptoms at home, particularly when they are sudden, severe, or different from a person’s usual sickle cell symptoms.
- Sudden or severe pain that does not improve with prescribed treatment.
- Trouble breathing, rapid breathing, or chest tightness.
- New or worsening chest pain, especially with fever or coughing.
- High fever or chills that may signal a serious infection.
- Sudden weakness, numbness, facial drooping, confusion, or trouble speaking.
- Severe weakness, dizziness, or fainting.
- Severe abdominal pain or sudden abdominal swelling.
- Severe headache, seizure, or loss of consciousness.
- Blue or gray lips or skin, which may indicate low oxygen.
If these warning signs occur, do not delay care while searching for the closest emergency room to me; seek the nearest emergency department or call emergency services when symptoms are severe.
Sickle Cell Anemia Treatment
Sickle cell anemia treatment aims to reduce pain crises, prevent complications, manage anemia and infections, and protect organs from long-term damage. Treatment varies based on the person’s age, disease type, symptoms, and overall health. Ongoing care from a hematologist may include medications, pain management, blood transfusions, and, for eligible patients, potentially curative stem cell transplantation or gene therapy.
Hydroxyurea
Hydroxyurea is an oral medication commonly used to reduce sickling and prevent serious complications. It can decrease pain crises and acute chest syndrome while improving anemia and reducing the need for transfusions and hospitalizations in appropriate patients.
L-Glutamine
L-glutamine may help reduce the frequency of pain crises and hospital admissions in people with sickle cell disease. It is approved for people aged 5 and older and may also reduce the need for blood transfusions and the risk of acute chest syndrome.
Pain Management
Pain treatment may include prescribed medicines, hydration, warmth, and other supportive measures depending on the severity and cause of the pain. Severe pain crises may require emergency evaluation and stronger pain treatment, particularly when symptoms do not improve with an established home plan.
Blood Transfusions
Blood transfusions increase the number of healthy red blood cells and can be used for serious anemia, stroke, acute chest syndrome, and other severe complications. Regular transfusions may also help reduce the risk of another stroke in people who have already experienced one.
Crizanlizumab
Crizanlizumab is a medication designed to reduce the adhesion of blood cells and help prevent vaso-occlusive pain crises. It may be considered for certain people with sickle cell disease when their healthcare provider determines that it is appropriate.
Infection Prevention and Treatment
People with sickle cell disease can be particularly vulnerable to serious infections, so preventive care is an important part of treatment. Vaccinations, recommended preventive medicines in children, prompt evaluation of fever, and appropriate antibiotics when an infection is suspected can reduce the risk of severe complications.
Exceptional Emergency Care for Sickle Cell Anemia
If you or a loved one with sickle cell anemia develops severe pain, difficulty breathing, chest pain, high fever, sudden weakness, or other concerning symptoms, do not delay seeking medical care. At Exceptional Emergency Centers, our experienced emergency physicians are available in our 24/7 emergency room to evaluate serious symptoms and provide prompt treatment.
Our centers provide emergency evaluation, on-site laboratory testing, imaging when medically necessary, and treatment for urgent complications associated with sickle cell anemia. If severe or sudden symptoms develop, timely emergency evaluation can help identify complications and provide appropriate care.
Key Takeaways
- Sickle cell anemia is an inherited blood disorder caused by abnormal hemoglobin genes.
- Sickled red blood cells can block blood flow, causing anemia, pain crises, and organ complications.
- Symptoms may include severe pain, fatigue, jaundice, swelling, fever, and breathing problems.
- Emergency symptoms include chest pain, trouble breathing, stroke signs, severe pain, and high fever.
- Treatment may include medications, pain management, blood transfusions, and potentially curative therapies.
Frequently Asked Questions
Is Sickle Cell Anemia Dominant or Recessive?
Sickle cell anemia is generally inherited in an autosomal recessive pattern. A person typically needs to inherit disease-causing hemoglobin gene variants from both biological parents to develop sickle cell disease.
Can White People Get Sickle Cell Anemia?
Yes. People of any race or ethnicity can have sickle cell anemia if they inherit the relevant hemoglobin gene variants. Although sickle cell disease is more common among people with ancestry from regions where malaria was historically common, it can occur in White people as well.
Is Sickle Cell Anemia Genetic?
Yes. Sickle cell anemia is a genetic blood disorder caused by inherited changes in the HBB gene that affect hemoglobin production. A person’s specific inherited gene combination determines whether they have sickle cell disease, sickle cell trait, or another hemoglobin condition.