Sickle cell anemia: symptoms, what it is, causes and treatment (2023)

overview

What is sickle cell anemia?

Sickle cell anemia is a form of inherited blood diseaseSickle cell anemia. Sickle cell anemia affects your red blood cells, turning them from round flexible discs into stiff and sticky sickle cells. Sickle cells keep red blood cells from doing their job, which carries oxygen throughout your body. Sickle cells also don't live as long as normal red blood cells. As a result, you don't have enough healthy red blood cells and you developAnämie, the condition that gives sickle cell anemia its name.

In the past, babies born with sickle cell anemia rarely grew to adulthood. Thanks to early detection and new treatments, about half of all people with sickle cell anemia are now living in their 50s. People with sickle cell anemia still face potentially life-threatening medical complications. However, healthcare providers have treatments that reduce the risk of complications and relieve symptoms when they do occur. (Unfortunately, there are many places in the world where people still don't have access to effective medical treatment for sickle cell disease.)

Who Does Sickle Cell Anemia Affect?

Sickle cell anemia is rare in the United States, affecting approximately 100,000 people. It mainly affects people whose ancestry traces back to parts of the world where many people liveMalariaand carry a gene that provides partial protection against anemia. This gene also causes sickle cell anemia. Sickle cell anemia affects many black people in the United States. It can also affect people of Southern European, Middle Eastern, or Asian-Indian descent.

How Does Sickle Cell Anemia Affect Humans?

Babies born with sickle cell disease may not have any symptoms for several months. If this is the case, the symptoms are extreme tiredness or restlessness due to anemia, painfully swollen hands and feet andjaundice. Babies can have toospleendamage affecting theirsimmune systemand increases their risk of bacterial infections. As people with sickle cell anemia get older, they can develop other and more serious medical problems that occur when organ tissues don't get enough oxygen. People with sickle cell anemia have an increased risk ofstrokeand lungs,Kidneys, spleen andLeberDamage.

symptoms and causes

What Causes Sickle Cell Anemia?

People with sickle cell anemia inherit the disease from their birth parents. In sickle cell anemia, the gene that helps make normal red blood cells mutates or changes. People who inherit the mutated hemoglobin protein gene from both birth parents suffer from sickle cell anemia. People who inherit the mutated gene from a biological parent have the sickle cell trait.

How does this mutation affect normal red blood cells?

Normal red blood cells contain hemoglobin. Hemoglobin is a protein and the main component of red blood cells. When the hemoglobin gene mutates, it creates sickle cells, which cannot navigate the network of blood vessels that carry oxygen, nutrients, and hormones throughout your body. Here's why:

• Normal hemoglobin is soluble, meaning it dissolves in liquid. Abnormal hemoglobin isn't as soluble and ends up forming solid clumps in your red blood cells.
• Red blood cells must be flexible to squeeze and slide through narrow blood vessels. Red blood cells, which carry abnormal solid hemoglobin, cannot do this. Instead, blood cells with abnormal hemoglobin block blood vessels and blood flow.
• Normal red blood cells live about 120 days. Sickle cells self-destruct within 10 to 20 days. Normally, your bone marrow makes enough red blood cells to replace dying cells. When cells die earlier than usual, your bone marrow becomes a factory struggling to balance supply and demand. If the bone marrow factory can't keep up, you don't have enough red blood cells.

What are the signs and symptoms of diseases related to sickle cell anemia?

Sickle cell anemia symptoms typically begin when babies are 5 to 6 months old. As people age, most people with sickle cell anemia are at increased risk of developing new conditions. Some of these conditions are life threatening. But by learning about conditions and symptoms, people with sickle cell anemia can seek help at the first sign of trouble so healthcare providers can treat the disease.

Vaso-Inclusive Crisis (VOC)

Healthcare providers may refer to this condition as an acute pain crisis. VOCs, or acute pain crises, are the most common reason people with sickle cell anemia need to go to the emergency room or spend time in the hospital. Symptoms include:

• Sudden severe pain.
• The pain can be sharp or stabbing.
• VOCs can affect any part of your body but typically affect your abdomen, lower back, arms and legs.

Living with VOCs is one of the more difficult aspects of sickle cell disease. Among other symptoms and complications, people with sickle cell anemia may feel depressed or anxious because of dealing with certain stigmas associated with the condition.

Stigma and sickle cell anemia

Health care providers sometimes call VOC the invisible disease because people who often have a pain crisis experience no symptoms other than sudden excruciating pain that is only relieved with opioid painkillers.

Studies show that sickle cell disease carries a stigma linked to people's need for opioid pain relievers to treat VOCs. Other studies show that ethnic minorities receive fewer painkillers and have to wait longer for painkillers than whites. Taken together, these stigmas are a double whammy, as sickle cell anemia commonly affects black or Hispanic people.

Akute Thoraxsyndrom (ACS)

Acute chest syndrome is the most common complication of sickle cell anemia. It is also the leading cause of death and the second leading cause of hospitalizations. It happens when sickle cells clump together and block blood vessels in your lungs. Symptoms include:

• Suddenlychest pain.
• Cough.
• Fever.
• difficulty breathing.

Anämie

People with sickle cell anemia can have mild, moderate, or severe forms of anemia. Symptoms include:

• Have skin color that is paler than usual.
• fatigue. This feels too tired to handle daily activities.
• difficulty breathing.

In addition to these symptoms, babies with anemia may be unusually fussy or irritable. Children may not grow as fast as other children their age or may step inpubertylater than children their age.

stroke

Anyone with sickle cell anemia is at risk of stroke, including babies. About 11% of people with sickle cell disease will have a stroke by age 20 and 24% will have a stroke by age 45. Find information about stroke symptoms here:

• Strong headache.
• Sudden weakness on one side of your body or your child's body.
• change in attention.
• problems speaking.
• trouble seeing.
• problems walking.

sequestration by the spleen

This happens when sickle cells become lodged in your spleen and force ityour spleen to get bigger. Splenic sequestration often causes acute anemia. Symptoms include:

• Pain in the upper left abdomen (abdomen).
• Sometimes children's enlarged spleens are visible or can be felt through their skin.

Bacterial Infections

People with sickle cell anemia have an increased risk of infections caused byStreptococcus pneumoniae,Haemophilus influenzaeand non-TyphisalmonellaSpecies. Symptoms include:

• Fever.
• Cough.
• difficulty breathing.
• pain in the bones.
• Headache.

Priapism

About 35% of all people designated male at birth (AMAB) will develop sickle cell anemiaPriapismor painful erections that last four hours or more.

Beingeschwüre

About 2% of people with sickle cell disease develop leg ulcers, usually after the age of 10. Leg ulcers are more common in people with AMAB and in people 65 years of age and older. Symptoms are painful sores that don't heal. People often develop these sores on their ankles.

Pulmonary Hypertension (PH)

About 6% to 11% of people develop sickle cell anemiapulmonary hypertension (PH). Symptoms include:

• Runimpulses.
• Fainting (fainting) orDizziness.
• Shortness of breath during exercise or activity and difficulty breathing at rest.

Chronic kidney disease

About 30% of people with sickle cell disease have chronic kidney disease. Symptoms include:

• A need to pee (urinate) more often.
• Fatigue.
• Appetitverlust.
• Swollen hands, feet and ankles.
• Shortness of breath.
• blood in urine (Hematuria) or urine that looks foamy.
• Swollen eyes.
• dry anditchy skin(Itching).
• difficulty concentrating.
• Sleep disorders.
• Deafness.
• nausea or vomiting.
• muscle cramps.
• high blood pressure(Hypertension).
• Skin color that is noticeably darker than usual.

retinal detachment

Sickle cells can cause retinal detachment by blocking blood vessels in your retina. Common symptoms are:

• see flashes of light.
• Many seeFloater- Spots, threads, dark spots and squiggly lines floating across your field of vision. (Seeing a few here and there is normal and nothing to worry about.)
• Darkening of your peripheral vision (side vision).
• Darkening or shadows that obscure part of your view.
• Obscuring or shadowing of part of your vision.

diagnosis and testing

How Do Healthcare Providers Diagnose Sickle Cell Anemia?

Health care providers diagnose sickle cell anemia by taking blood samples. You can use a technique calledhemoglobin electrophoresisor high performance liquid chromatography. This test identifies and measures different types of hemoglobin in red blood cells, including the abnormal hemoglobin that causes sickle cell anemia. (As of 2007, all babies born in the United States are tested for sickle cell disease immediately after birth. Early diagnosis and treatment are the reason fewer United States-born babies and young children die from sickle cell disease.)

What is the likelihood that my child will be born with sickle cell disease?

That depends on whether you and/or your partner inherited sickle cell anemia or have sickle cell traits. Sickle cell anemia is not a disease. People with sickle cell anemia have a mix of normal and abnormal hemoglobin in their red blood cells. They have enough normal hemoglobin in their red blood cells to keep the cells from sickling. However, you are at an increased risk of having children with sickle cell disease.

If you and your partner both have sickle cell disease, there is a 25% chance that your child will be born with sickle cell disease. If only one of you has sickle cell disease, your child will not be born with sickle cell disease, but there is a 50% chance your child will be born with sickle cell disease. Studies estimate that about 1 to 3 million people in the United States have sickle cell traits, including about 8% to 10% of people who are black.

Prenatal Screening

Healthcare providers can diagnose sickle cell anemia before your baby is born. They do this by taking a sample of the biological mother's amniotic fluid or tissue from the biological mother's placenta. Then they examine the samples for signs of the sickle hemoglobin gene that causes the condition.

management and treatment

Can Healthcare Providers Cure Sickle Cell Anemia?

At the moment,allogeneic stem cell transplantationThis is the only way healthcare providers can cure sickle cell disease and other forms of sickle cell disease. Healthcare providers typically recommend transplantation for people with serious complications such as stroke, acute chest syndrome, or recurrent VOC/acute pain crises.

How do healthcare providers treat sickle cell anemia?

Healthcare providers typically treat sickle cell anemiawith blood transfusions, antibiotics to treat infections, and medications that reduce symptoms caused by sickle cell anemia complications. These medications may include hydroxyurea, voxlelotor, L-glutamine therapy, and crizanlizumab.

Hydroxyurea (brand names Droxia®, Hydrea®, Siklos®, Mylocel®)

Hydroxyurea (pronounced “hye drox ee ure ee a”) is a cancer drug now used to treat sickle cell anemia. In 2017, the U.S. Food and Drug Administration (FDA) approved hydroxyurea for the treatment of sickle cell anemia in children ages 2 and older and adults. Studies Show Hydroxyurea:

• Reduces the number of VOC/Acute Pain Crises by 50%.
• Decreases cases of Acute Chest Syndrome.
• Reduces the need for blood transfusions.
• Improves anemia symptoms.
• In children, hydroxyurea relieves dactylitis, which causes painful swelling.

Voxelotor (brand name Obryta®)

This drug prevents red blood cells with abnormal hemoglobin from becoming sickled.Voxelotor(pronounced "vox el oh tor") can prevent some red blood cells from being destroyed faster than your bone marrow can replace them. In 2019, the FDA approved Voxelotor for the treatment of sickle cell disease. In late 2021, the FDA approved Voxelotor for the treatment of children ages 4 and older.

L-glutamine therapy (brand name Endari®)

L-glutamine helps reduce some of the complications associated with sickle cell anemia. Sickle cells develop over time. L-Glutamine helps protect sickle cells from further deformation. In 2017, the FDA approved Endari for the treatment of children ages 5 and older and adults.

Crizanlizumab tmca (brand name Adakveo®)

People with sickle cell anemia deal with sudden bouts of excruciating pain known as VOC/acute pain crises. In 2019 the FDA approved itCrizanlizumab-tmca(pronounced "criz-l-izum-ab") Medicines used to treat people 16 years and older. This drug may help reduce the frequency of VOC/acute pain crises.

prevention

How can I prevent sickle cell anemia?

Sickle cell anemia is a hereditary disease. You can have a blood test to find out if you have sickle cell disease, which you could pass on to your children. People can have sickle cell traits without suffering from sickle cell anemia or sickle anemia.

Outlook / Forecast

What can I expect if I or my child has sickle cell disease?

Sickle cell anemia is a chronic disease that cannot be cured. However, there are medications that healthcare providers use to treat complications of sickle cell anemia. In some cases, these drugs can prevent sickle cell anemia from getting worse. Young children can use some of these drugs. As children grow up, they may be able to take medications that do more to treat complications of sickle cell anemia.

What is the life expectancy for someone with sickle cell disease?

There was a time when babies born with sickle cell disease rarely lived past the age of 5. Now healthcare providers are able to diagnose sickle cell disease and begin treatment that relieves symptoms and complications. People are living with sickle cell anemia in their 50s. Despite this, people with sickle cell anemia live 20 to 30 years less than people without the disease.

to live with

What is it like living with sickle cell anemia?

New treatments are helping people with sickle cell disease live longer and with better quality of life. the us Centers for Disease Control and Prevention (CDC) have the following suggestions for living well with sickle cell disease:

• Find good medical care. Sickle cell anemia is complicated. Often, treating sickle cell anemia requires a multidisciplinary team of healthcare providers who specialize in blood disorders.
• Get checked up regularly. Regular health check-ups with your GP can prevent serious medical complications. If you have a relationship with your doctor who understands your situation, it may be easier to get help when you're having an acute pain crisis.
• Take care of your emotional health. Unfortunately, there are stigmas associated with sickle cell disease. Sometimes these stigmas result in people suffering from depression or anxiety. Talk to your doctor if you're struggling with feelings related to stigma. They can recommend resources to help you. Additionally, they may be able to advocate for you by educating their peers about the complications and symptoms of sickle cell disease.
• prevent infections. Talk to your doctor about vaccinations and take steps to protect yourself from infection.
• Eat healthy. Eat a balanced diet and drink eight to ten glasses of water a day.
• Manage your environment. People with sickle cell anemia need to maintain a balanced body temperature to avoid VOC/acute pain crises, so it's important not to get too hot or too cold.
• Move. Regular physical activity improves your mood and your health. But make sure to take it easy, rest when you need to and stay hydrated.
• Get support. Because sickle cell anemia is a rare disease, most people don't understand what it's like to live with it. Ask your doctor for suggestions for support groups.
• Look for clinical trials. Healthcare providers and researchers are constantly testing new treatments. Participating in a clinical trial can be a way to obtain new drugs and treatments. Ask your doctor for help finding a clinical trial.

Living with medical complications

Sickle cell anemia is a chronic disease with symptoms that change over time. For example, children and adults need to manage pain from acute chest syndrome or VOCs. You have an increased risk of stroke. As people age, they are likely to develop new complications, such as chronic lung disease and painful leg ulcers.

If you or your child has sickle cell disease, ask your doctor what you can do now and what to expect. They'll likely schedule regular tests to monitor signs and symptoms so they can diagnose and treat complications as early as possible.

manage pain

Studies show that people with sickle cell anemia are constantly trying to manage pain, which often affects their quality of life. Sometimes they have acute pain, which occurs when sickle cells block blood flow. This is VOC and a medical emergency. Other people have chronic pain — pain that lasts longer than three to six months. If you have chronic pain, you should consider working with a pain management specialist. They can recommend different ways to deal with pain.

When should I go to the emergency room?

Sickle cell anemia can cause serious medical conditions. Go to the emergency room if you have the following symptoms:

• Extreme tiredness.
• Shortness of breath.
• Dizziness.
• cardiac arrhythmia.

Symptoms of Acute Chest Syndrome

• Fever greater than 101.3 degrees Fahrenheit (or 38.5 degrees Celsius).
• chest pain.
• Cough.

symptoms of a stroke

• sudden weakness.
• Numbness on one side of your body or your child's body.
• Confusion.
• Difficulty speaking, seeing, or walking.

other symptoms

Painful erections that last four hours or more. This is a symptom of priapism.

A note from the Cleveland Clinic

For more than a century, healthcare providers and families have battled the heartbreaking consequences of babies born with sickle cell disease. Few babies lived long enough to celebrate their 5th birthday. About 10 years ago, healthcare providers began to make great strides in treating sickle cell anemia. A baby born now will likely live well into their 50s. Thanks to research, healthcare providers can treat sickle cell disease as a chronic disease. But it is a disease with serious and sometimes life-threatening medical complications. If you or your child has sickle cell disease, you may be grateful for past gains but excited about the future. Researchers and healthcare providers are focused on finding a cure for sickle cell anemia.