Sickle cell disease: Symptoms, Causes, treatment and prevention

What is sickle cell disease?

Sickle cell disease is characterized by a series of genetic red blood cell abnormalities that cause hemoglobin, the oxygen-carrying protein, to be damaged. Red blood cells are typically disc-shaped and flexible, allowing them to move freely through blood vessels.

Your red blood cells are crescent or “sickle” shaped if you have sickle cell disease.These cells are stiff and difficult to bend and move, and they might obstruct blood flow to the rest of your body.

Blocked blood flow in the body can cause major problems such as stroke, vision problems, infections, and pain crises. You’re more likely to get sick from COVID-19 if you have sickle cell disease.

The lifespan of red blood cells can be as long as 120 days.Sickle cells, on the other hand, have a lifespan of only 10 to 20 days.

Because of their structure and stiffness, the spleen may be able to eradicate sickle cell disease.

The spleen aids in the filtering of pathogens from the circulation This filter catches sickled cells and causes them to die. Chronic anemia is caused by a lack of healthy red blood cells circulating in the body.

Sickle cell disease affects the spleen as well.As a result, you’re more susceptible to illnesses.

Both parents must have sickle cell disease (two sickle cell genes) or sickle cell trait in order for you or your child to inherit sickle cell disease (one sickle cell gene).

Sickle cell disease has several variants, including sickle C and sickle thalassemia, both of which are dangerous illnesses but can be milder at times.

This condition causes the creation of aberrant sickle cell disease hemoglobin, which is present at birth in affected individuals.

Normally, the sickle cell disease hemoglobin molecule, which is found inside red blood cells, binds to oxygen in the lungs and transports it throughout the body.

A blood test for sickle cell disease hemoglobin S – the faulty form of hemoglobin – is used to identify sickle cell disease. A sample of blood is examined under a microscope to confirm the diagnosis, looking for vast numbers of sickled red blood cells, which are the disease’s defining attribute.

An unborn infant can be tested for sickle cell disease.

Amniocentesis, or the removal of fluid from the baby’s environment with a needle for testing, can indicate whether the fetus has sickle cell disease or carries the sickle cell gene.

Types of sickle cell disease

Sickle cell disease is a catch-all name for a range of hereditary illnesses that affect the sickle cell disease hemoglobin in the body.

Haemoglobinate alpha globin chains and two beta globin chains make up the oxygen-carrying protein in red blood cells.

Sickle cell disease is caused by a mutation in the beta globin gene, which results in sickle hemoglobin, or Hb S, which is an abnormal sickle cell disease 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.

Following most common types of sickle cell disease:

Hemoglobin SS Disease

The most prevalent and severe form of sickle cell disease is hemoglobin SS disease.When both parents carry the sickle cell disease hemoglobin S gene mutation, it results in a child with sickle cell disease.

The body exclusively manufactures hemoglobin S in this kind. This type of anemia is known as sickle cell disease anemia.

Sickle Cell disease Anemia occurs when a kid gets one substitution beta globin gene (the sickle cell gene) from each parent (SS). The populations of African and Indian heritage have a high prevalence of sickle cell disease anemia.

Hemoglobin SB 0 (Beta Zero) Thalassemia

When you inherit the hemoglobin beta S gene from one parent and a hemoglobin beta0 thalassemia gene mutation from the other, you get hemoglobin S beta zero thalassemia. Because the body produces hemoglobin S exclusively, it has symptoms that are similar to hemoglobin SS disease and is also known as sickle cell disease anemia.

Hemoglobin SC Disease

The second most frequent types of sickle cell disease is hemoglobin SC illness. It happens when one parent gives you the hemoglobin beta S gene and the other gives you the hemoglobin C gene. Symptoms of sickle cell disease hemoglobin SC disease and hemoglobin SS disease may be similar. The symptoms, on the other hand, may be milder.

Sickle cell disease is types of sickle cell disease. Hemoglobin-C illness has symptoms that are similar to sickle cell disease anemia; however it causes less anemia due to a greater blood count level. People of West African, Mediterranean, and Middle Eastern heritage have a high prevalence of Sickle cell disease hemoglobin-C illness.

Hemoglobin SB+ (Beta) Thalassemia

When you inherit the hemoglobin beta S gene from one parent and the hemoglobin beta plus thalassemia gene from the other, you get hemoglobin SB+ (beta) thalassemia. This kind produces some typical beta hemoglobin, but in smaller levels. This type of sickle cell disease is less severe than hemoglobin SS disease because the body produces some normal hemoglobin. Although the symptoms are usually milder than those associated with hemoglobin SS or SC illness, problems might still arise.

Hemoglobin SD, Hemoglobin SE, And Hemoglobin SO

Sickle cell disease of this form is less prevalent and usually less severe.

What causes sickle cell disease

A gene deficiency causes sickle cell disease, which is an inherited condition.

Only two genes, one from the mother and one from the father, are required for a person to be born with sickle cell disease.

An individual who inherits only one gene is said to be a carrier of the disease and is healthy. If a carrier has a kid with another carrier, the chances of producing a child with sickle cell disease increase.

There is a 1 in 4, or 25%, chance of conceiving a kid with sickle cell disease if both parents are carriers of the sickle cell gene.

Sickle cell disease crisis

A sickle cell disease crisis is a painful episode that can strike a sickle cell disease patient at any time.

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 disease crisis arises. This produces discomfort ranging from mild to severe.

The discomfort can persist anywhere from a few hours to several days. Other words for similar incidents include “difficult event” and “painful crisis.”

Some people with sickle cell disease have many painful episodes, while others have few or none at all.

The discomfort can occur anywhere on the body.However, the following are the most prevalent areas:

  • Spinal bones are the bones that make up the spine.
  • Arms and legs have bones.
  • Chest.
  • Abdomen.

This is similar to what happens during a sickle cell disease crisis. The form of red blood cells is normally spherical and has some give to it, allowing them to circulate freely throughout your body. When you have sickle cell disease (SCD), however, some of your cells are twisted and rigid, like a sickle.

Symptoms of Sickle cell disease

One of the most prevalent and severe symptoms of sickle cell disease is pain episodes known as sickle cell disease crisis.

It is present at birth if a person has sickle cell disease. However, most neonates do not experience any symptoms of the condition until they are around 5 or 6 months old.

Symptoms ofSickle cell diseasediffer from person to person and fluctuate over time. Depending on how sickle cell disease impacts your health, you may develop symptoms over time.

The following are some of the early symptoms of sickle cell disease:

  • When a large number of red cells undergo hemolysis, a yellowish tint of the skin, known as jaundice, or the whites of the eyes, known as icterus, develops.
  • Anemia can cause fatigue or irritability.
  • Dactylitis is a painful swelling of the hands and feet.

It’s not always clear what causes severe pain, although the weather (such as wind, rain, or cold), dehydration, stress, or excessive exercise can all play a role.

How to treat sickle cell disease

Bone marrow or stem cell transplantation is the only way to cure sickle cell disease. These transplants are normally reserved for children with severe sickle cell disease since they are hazardous and can have substantial side effects.

The bone marrow must be a close match for the transplant to function. A brother or sister is usually the ideal donor.

Treatments exist that can help alleviate symptoms, reduce problems, and extend life:

  • Antibiotics are used to try to prevent infections in children under the age of six.
  • For acute or chronic pain, pain medications are available.
  • Hydroxyurea is a drug that has been demonstrated to minimize or avoid various problems associated with sickle cell disease.
  • The amount of fetalhemoglobin in the blood grows. This medicine isn’t for everyone, so talk to your doctor about whether or not you should take it.
  • This medication is not recommended for use during pregnancy.
  • Vaccinations for children to avoid illnesses
  • Severe anemia necessitates blood transfusions. If you’ve had major issues, such as a stroke, you may need blood transfusions to avoid further complications.

To stay as healthy as possible, make sure you get regular medical care, live a healthy lifestyle, and avoid situations that could trigger a pain crisis.

Hydroxyurea dosage for sickle cell

  • Hydroxyurea dosage for sickle cell especially important in low-resource settings, when medicine and routine laboratory monitoring can be prohibitively expensive and medical care is scarce.
  • Hydroxyurea dosage for sickle cell anemia contains many of the qualities of an optimal medication for sickle cell disease anemia and delivers therapeutic efficacy via numerous modes of action.
  • Over the last 25 years, a great deal of knowledge has been gained about its safety and efficacy in patients with sickle cell disease.
  • Hydroxyurea was found to be clinically effective in reducing acute vaso-occlusive episodes in seriously afflicted persons in a study. Based on this body of knowledge, hydroxyurea has emerged as a viable treatment option for children and adolescents who suffer from repeated vaso-occlusive episodes; recent research shows that it can prevent or reverse chronic organ damage over time.
  • Patients and families are not offered therapy or decline because of exaggerated fears since many healthcare practitioners lack understanding about hydroxyurea sickle cell.Because of intricate interactions between genetic and environmental disease modifiers, the form and severity of sickle cell disease clinical symptoms varies greatly from patient to patient.
  • Furthermore, patients with sickle cell disease had a mixed response to hydroxyurea therapy. According to the percentage increase in HbF, some patients respond well to hydroxyurea dosage for sickle cell while others do not.

Prevention of sickle cell disease

Symptoms of sickle cell disease can be avoided by preventing sickle-shaped red blood cells. There are several ways to keep sickle cells circular, including:

  • Make sure you drink plenty of water.
  • One of the most effective ways to avoid sickle cell symptoms is to stay hydrated.
  • Below is a link to our hydration fact sheet.
  • Extremely hot or cold temperatures should be avoided.
  • High elevations, for example, should be avoided in regions or situations when there is a lack of oxygen.
  • Strenuous exercise or athletic training should be avoided.
  • During activity, get plenty of rest and take frequent pauses.
  • Take the hydroxyurea medication. Patients taking hydroxyurea must be checked by a doctor on a frequent basis to ensure that the correct dose is provided for the greatest results.

FAQ

How do you get sickle cell?

In sickle cell disease, the defective hemoglobin causes red blood cells to become hard, sticky, and malformed. The faulty form of the gene must be passed down from both parents for a child to be affected. If only one parent passes on the sickle cell gene to their child, the child will inherit the trait.

How long do sickle cell patients live?

The median age of death for children and adults with sickle cell disease (homozygous for sickle hemoglobin) was 42 years for males and 48 years for females. Males with sickle cell hemoglobin C disease died at a median age of 60 years, while females died at a median age of 68 years.

Can a white person have sickle cell disease?

Sickle cell trait is a genetic blood disease that affects 1 million to 3 million people in the United States, with African Americans accounting for 8 to 10% of those affected. Sickle cell trait can affect Hispanics, South Asians, Caucasians from southern Europe, and people from Middle Eastern countries.

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?

People with sickle cell disease can live full lives and participate in most activities that others do. The following suggestions will help you, or someone you know, stay as healthy as possible if you have sickle cell disease.

Difference between sickle cell anemia and sickle cell disease

Sickle cell disease (SCD) is a devastating group of hereditary diseases (genetic). It has an effect on the blood’s red blood cells.Sickle cell anemia is a type of sickle cell disease characterized by the presence of two sickle cell genes.

Conclusion

Individuals with sickle cell disease have a drastically reduced quality of life, which is comparable to or worse than patients with other chronic conditions such as arthritis.

In addition to a reduction in the frequency of acute painful episodes, acute chest syndrome, and blood transfusion, patients who responded to hydroxyurea therapy had an improvement in certain aspects of quality of life, including social function, pain recall, and general health perception.

Responders to hydroxyurea with a pain score >5 achieved a significant reduction in the tension scale compared to the placebo group and non-responders.

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