Table of Contents
What is sickle cell disease?
Sickle disease refers to a group of genetic disorders in red blood cells that cause hemoglobin, the oxygen-carrying protein, to break down.
Red blood cells are normally disc-shaped and flexible, allowing them to travel freely through blood channels. In some cases, this results in a hard, sickle-like form.
Sickle cell disease is also known by the following terms:
- HbS blood disorder.
- Hemoglobin S Deficiency
- SCD
- Sickle cell disorder
- Hemoglobin S causes a sickling disorder.
SCD is named for the fact that your red blood cells resemble a sickle, a C-shaped farm implement, when you have it.
Types of sickle cell disease
Two alpha globin chains and two beta globin chains make up a sickle cell. Sickle cell disease is caused by a mutation in the beta globin gene, which results in sickle cell disease hemoglobin, or Hb S, aberrant hemoglobin.
Depending on whether the hemoglobin beta S gene is inherited with another beta S gene or with a separate beta gene mutation, different types of sickle cell disease develop.
The important types of sickle cell diseases are:
- Hemoglobin SS disease
- Hemoglobin SC disease
- Hemoglobin SB+ (beta) thalassemia
- Hemoglobin SB 0 (Beta-zero) thalassemia
- Sickle cell trait
Hemoglobin SS disease
The most frequent kind of sickle cell disease is hemoglobin SS disease. It happens when both parents give you copies of the hemoglobin S gene. This results in Hb SS haemoglobin. Individuals with the most severe form of sickle cell disease also experience the most severe symptoms at a higher rate.
This condition is commonly referred to as “sickle cell anemia.”
Hemoglobin SC disease
This is the second most common type of sickle cell disease. Hemoglobin sickle cell disease happens when one parent gives you the haemoglobin beta S gene and the other gives you the haemoglobin C gene. People with haemoglobin SC disease may experience symptoms that are comparable to those who have haemoglobin SS disease.
Hemoglobin SB+ (beta) thalassemia
A sickle cell gene is inherited from one parent while a gene for beta-thalassemia, another type of anemia, is inherited from the other. This type of sickle cell disease produces some typical beta haemoglobin, but in smaller levels. This type of sickle cell disease is less severe than hemoglobin SS disease because the body produces some normal haemoglobin. Although the symptoms are usually milder than those associated with haemoglobin SS or SC illness, problems might still arise.
Hemoglobin SB 0 (Beta-zero) thalassemia
The fourth kind of sickle cell disease is sickle beta-zero thalassemia. The beta globin gene is also involved. This type of sickle cell disease displays symptoms that are comparable to Hb SS anaemia. The symptoms of beta zero thalassemia can, however, be more severe at times. It has been linked to a worse prognosis.
Sickle cell trait
Sickle cell trait is a condition in which a person inherits a mutated gene (haemoglobin S) from only one parent. This type of sickle cell disease could be symptom-free or have fewer symptoms.
Other types of sickle cell diseases are usually very common : Hemoglobin SD, Hemoglobin SE, Hemoglobin SO .
What causes sickle cell disease ?
A gene deficiency causes sickle cell disease, which is an inherited condition.
A mutation in the gene that signals your body to generate the nutrient compound that makes plasma red and allows red blood cells to transmit oxygenated blood throughout your body causes sickle cell anaemia (sickle cell disease hemoglobin). The defective hemoglobin in sickle cell anaemia causes red blood cells to become hard, sticky, and malformed.
If only one parent carries the sickle cell gene to their child, the youngster will inherit the characteristic. People with the sickle cell trait produce both normal and sickle cell disease hemoglobin because they have one normal and one faulty haemoglobin gene. There is a one in four, or 25%, risk of conceiving a kid with sickle cell disease if both parents are carriers of the sickle cell gene.
Sickle cell crisis
When sickle-shaped red blood cells clump together and restrict small blood arteries that supply blood to certain organs, muscles, and bones, a sickle cell crisis arises.
A sickle cell disease crisis is a sudden onset of discomfort that can last anywhere from a few hours to many days. It occurs when sickled red blood cells obstruct small blood arteries carrying blood to the bones. Back, knees, legs, arms, chest, and stomach pain are all possibilities. The discomfort can be throbbing, acute, dull, or stabbing in nature. The frequency and severity of pain vary greatly from person to person and crises to crisis.
You may be able to treat your sickle cell pain crisis at home with over-the-counter medications. If these medications don’t relieve your pain, you can’t keep fluids down, or you’re in excruciating agony, you may need to go to the emergency room. If your pain persists or you have additional issues, you may need to be admitted to the hospital for treatment.
Symptoms of Sickle cell disease
The following are examples of early indications and symptoms:
Jaundice manifests itself as a yellowing of the skin and whites of the eyes, as well as fatigue, discomfort, and swelling in the hands and feet.
Anemia
Sickle cells are more fragile than typical red blood cells, and they usually die within 10 to 20 days. The lifetime of normal cells is 120 days. As a result, anaemia, or a deficiency of red blood cells, develops. Tiredness arises when there aren’t enough red blood cells to deliver oxygen throughout the body.
There are times when you are in excruciating pain.
Sickle cell disease is characterised by pain episodes. Sickle-shaped red blood cells impede blood flow via tiny blood arteries, causing discomfort in the chest, gut, joints, and bones. The intensity and frequency of the pain may change over time, and you may need to visit the hospital.
Swelling occurs in the hands and feet.
When sickle-shaped red blood cells impede blood flow to the hands and feet, swelling follows.
Infections are very common.
Sickle cells can destroy tissue and lead to ulcers. If your spleen is injured, you may get infections. If the body’s cells don’t get enough oxygen, they might develop a variety of symptoms and effects. These can happen at any age, and they are different for everyone.
Sickle cells deteriorate at a faster rate than regular red blood cells. As a result, anaemia, or a deficiency of red blood cells, might develop.
Hydroxyurea for sickle cell
For more than 20 years, many persons with sickle cell disease have safely taken hydroxyurea dosage . Even small children will be able to handle it. Hydroxyurea dosage for sickle cell disease has a long history of use as a safe and effective sickle cell disease therapy. The use of hydroxyurea dosage raises total and foetal haemoglobin levels in children with SCD. RBC gelation and sickling are slowed by a rise in foetal haemoglobin. Hydroxyurea dosage for sickle cell disease also lowers the number of circulating leukocytes, which inhibits neutrophil adhesion to the vascular endothelium. As an outcome, pain crises and treating acute syndrome episodes are less common.
Side Effects of hydroxyurea dosage
All drugs have the potential to cause negative effects. The following negative effects may occur in some people who take hydroxyurea dose :
• Hair thinning or minor hair loss
• Darkening of fingernail beds
• Nausea and vomiting (feeling sick to your stomach)
Hydroxyurea dosage for sickle cell disease can occasionally induce more significant negative consequences. The percent of sickle cell disease sufferers who utilise hydroxyurea dose, on the other hand, do not have any significant side effects.
If you have any new symptoms after starting hydroxyurea dosage for sickle cell disease, tell your doctor; you may be able to lower your dose.
How to treat sickle cell disease
Sickle cell disease is commonly treated for the rest of one’s life.
A team of diverse healthcare specialists working together in a specialty sickle cell centre supports children and adults with sickle cell disease.
Your healthcare team will assist you in learning more about sickle cell disease and will collaborate with you to develop an individualised care plan that addresses all of your requirements and concerns.
Pain relievers for sickle cell disease
If your sickle cell disease (pain episodes) persists, a drug called hydroxycarbamide (hydroxyurea) may be prescribed. It’s normally taken once a day as a capsule.Because hydroxycarbamide can reduce the number of other blood cells including white blood cells and platelets (clotting cells), you’ll need to undergo regular blood tests to keep track of your health.
If you suffer frequent episodes of pain, you might be able to benefit from crizanlizumab.Every four weeks, you will be administered crizanlizumab by injection into a vein.
Treating a sickle cell disease at home
In most cases, you can handle a sickle cell disease at home.
The following items can assist:
• Take over-the-counter pain relievers such as paracetamol or ibuprofen if the pain is severe, your general practioner may prescribe stronger pain relievers
• Drink plenty of water
• Gently massage the affected body part with a warm towel or a wrapped heated pad – many pharmacies sell heat pads that you can use for this purpose
You may need to stay in the hospital for a few days to get very strong medicines, such as morphine.
Sickle cell disease can potentially lead to a variety of additional issues that may require treatment.
Gallstones, bone and joint discomfort, leg ulcers, those at high risk of stroke, and acute chest syndrome are just a few examples.
Chelation therapy may be necessary for people who require a lot of blood transfusions. This brings the level of iron in their blood down to a safe level.
Prevention of sickle cell disease
There is no way to know for sure, but there are certain things you can do to improve your chances to get sickle cell disease :
• Swimming in chilly water should be avoided.
• Only travel with commercial carriers. Airplanes that do not regulate air pressure may cause complications.
• Reduce the consumption of alcohol.
• Stop being in the contact of sick people.
• If you’re pregnant or intend to get pregnant, seek prenatal care immediately away.
• Work with your doctor to manage any other health concerns you may have, such as diabetes.
• Keep your vaccinations and injections up to date.
Symptoms of sickle cell disease can be avoided by avoiding sickle-shaped red blood cells. Drinking enough of water is one way to keep sickle cells in round circular shape. Best way to avoid sickle cell symptoms stay hydrated .
• Stay away from extremes of heat and cold.
• Stay away from areas or circumstances where there is a lack of oxygen, such as high elevations.
• Do not engage in rigorous physical activity or athletic training.
• Take plenty of rest and pauses during activity .
• Take the hydroxyurea medication. Patients taking hydroxyurea should see a doctor on a regular basis to ensure that they are getting the right dose for the best benefits.
FAQ
How do you get sickle cell?
The defective haemoglobin in sickle cell disease anaemia leads red blood cells to become hard, sticky, and malformed. For a kid to be impacted, the faulty form of the gene must be passed down from both parents. If only one parent carries the sickle cell gene to their child, the youngster will inherit the characteristic.
How long do sickle cell patients live?
The median age at death for children and adults with sickle cell anaemia (homozygous for sickle haemoglobin) was 42 years for males and 48 years for females. The median age at death for people with sickle cell disease haemoglobin C disease was 60 years for males and 68 years for females. Patients with overt organ failure, primarily renal, accounted for 18% of mortality among adults with sickle cell disease. Thirty-three percent had no signs or symptoms of organ failure but died as a result of an acute sickle crisis (78 percent had pain, the chest syndrome, or both; 22 percent had stroke).
Can a white person have sickle cell disease?
Yes but it is very rare . The strategy to establishing a clear laboratory diagnosis of sickle cell disease in two white American patients, this study demonstrates the needs for a definitive sickle cell disease in clinical laboratories.According to an examination of the literature, these patients appear to be the only white Americans with sickle cell disease who have had their diagnosis confirmed.
Certain ethnic groups are more likely to have sickle cell disease, such as:
- African Americans are a diverse group of people (8 to 10 percent of African Americans have sickle cell trait)
- Hispanics
- South Asians are a diverse group.
- Southern European Caucasians
- Individuals from the Middle East
What blood type carries sickle cell disease?
In the study population, blood group O was the most frequent ABO blood group (47.7%), followed by A (22.5%), B (25.2%), and AB (25.2%). (4.6 percent ). The HbAS and HbAC mutations were found in 14.4% and 5.8% of people, respectively.
Can a person with sickle cell disease live a normal life?
When you have sickle cell disease, you can live a full and active life. Most of the activities that other people do are available to you. Making informed decisions is critical in preventing the situation from escalating into a crisis.
You won’t have complete control on the effects of sickle cell disease on body. You may, however, take actions to control pain and lower your risk of issues.
They can clog or break down, resulting in a reduction in red blood cell life. Sickle cells have a shorter lifespan than regular red blood cells. This will result in more iron being stored in the liver and heart, which may cause harm to these organs. Liver failure, cardiac arrhythmia (irregular heart beats), an enlarged heart (cardiomyopathy), and heart failure could all arise from the damage.
Difference between sickle cell anemia and sickle cell disease
Sickle cell disease
- The red blood cells are affected by sickle cell disease. Haemoglobin, the oxygen-carrying component of red blood cells, is deficient in people with sickle cell disease. The red blood cells, which are ordinarily flattened discs, become crescent-shaped due to the deficient haemoglobin. The cells resemble a sickle, which is farming equipment. That’s how the name came to be.
- Sickle cell disease patients frequently have a deficiency in red blood cells. The available red blood cells can become rigid and sticky, obstructing blood flow throughout the body.
- This blood flow limitation can result in: pain, anemia, blot clots, insufficient oxygen delivery to tissues, various illnesses, and death.
Sickle cell anemia
Sickle cell anaemia, on the other hand, causes red blood cell deformation only in rare cases and under certain circumstances. People with sickle cell anemia have enough normal haemoglobin to keep their cells from becoming sickle-shaped in the majority of cases. Without the cell damage, red blood cells operate normally, transporting oxygen-rich blood to the cardiovascular and respiratory systems.
Conclusion
Sickle cell disease is a condition that is passed down through the generations. If you’re concerned about being a carrier, speak with a genetic counsellor. This can assist you in comprehending treatment options, preventative actions, and reproductive options. There have been several advancements in the treatment and management of sickle cell patients since doctors initially recognised the condition more than a century ago.
