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Sickle Cell Anemia: Types, Causes, And Treatment

Red blood cells (RBCs) are afflicted by the genetic condition known as sickle cell disease (SCD), also known as sickle cell anemia. RBCs frequently resemble discs, which helps them squeeze through even the narrowest blood vessels. However, in this state, the RBCs resemble a sickle and have a unique crescent shape. Due to their sticky, inflexible nature and propensity for becoming stuck in tiny capillaries, they prevent blood from reaching various body sections. This could cause pain and harm to the tissue.

An autosomal recessive disease is SCD. To have the disease, you require two copies of the gene. You are considered to have the sickle cell trait if you only have one copy of the gene.

Types of Sickle Cell Anemia

Haemoglobin is the name of the protein that composes red blood cells that delivers oxygen. Two beta chains and two alpha chains make up the majority of them. The four main types of sickle cell anemia are caused by various mutations in these genes.

Haemoglobin SS disease – The most prevalent form of sickle cell illness is hemoglobin SS disease. It takes place when you inherit copies of your parents’ hemoglobin S genes. As a result, Hb SS hemoglobin is produced. People with the most severe form of SCD also tend to exhibit the worst symptoms more frequently.

Haemoglobin SC disease – In addition to sickle cell anemia, hemoglobin SC illness is another kind of sickle cell disease. When you inherit both the Hb S and Hb C genes from a single parent, it ensues. Similar symptoms can be seen in those with Hb SC and Hb SS. The anemia is less severe, though.

Hb SB+ (beta) Thalassemia – The generation of beta globin is impacted by hemoglobin SB+ (beta) thalassemia. Red blood cells grow smaller as a result of less beta-protein production. If the Hb S gene is present, the condition hemoglobin S beta-thalassemia can be inherited. The symptoms are not as bad.

Haemoglobin SB 0 (Beta-zero) Thalassemia – Sickle beta-zero thalassemia is the fourth variant of sickle cell disease. The gene for beta-globin is also involved. It has signs like Hb SS anemia. Beta zero thalassemia, however, can display more serious signs and symptoms. It’s linked to a worse prognosis.

Haemoglobin SD, SE, and SO – These rare forms of sickle cell disease typically have mild symptoms.

Sickle cell Disease

People with the hemoglobin S gene mutation and a single-parent family history are said to have the sickle cell trait. They can exhibit lesser symptoms or none at all.

What Causes of Sickle Cell Anemia

A blood-related condition called sickle cell anemia is inherited from one’s biological parents. The gene that helps produce healthy red blood cells mutates or changes in sickle cell anemia. People with sickle cell anemia have both of their biological parents’ faulty hemoglobin protein genes. People who inherit the mutant gene from one biological parent have sickle cell characteristics.

Haemoglobin S is the name for the two defective hemoglobin genes that sickle cell disease patients receive from each of their parents. When just one parent passes on the hemoglobin S gene and the other parent passes on the hemoglobin A gene, the individual has a sickle cell trait.

Learn about Bone Marrow Transplant in India.

What Are The Signs And Symptoms of Sickle Cell Anemia

Sickle cell anemia symptoms typically first appear in children. Although they often commence at about 6 months old, they are known to happen in infants as young as 4 months old. SCD can manifest in many different ways, but they all share a common set of symptoms that can be minor to severe. These consist of:

  • severe tiredness or irritability brought on by anemia
  • fussiness in infants
  • bedwetting brought on by related kidney issues
  • Jaundice
  • swelling/ discomfort in the hands and feet
  • Multiple infections
  • chest, back, arm, leg, or other pain

Who is Affected By Sickle Cell Anemia

Millions of people around the world suffer from sickle cell disease (SCD), which is more prevalent among those whose ancestors originated in sub-Saharan Africa, Saudi Arabia, India, and Mediterranean nations like Turkey, Greece, and Italy. In the Western Hemisphere’s Spanish-speaking regions (South America, the Caribbean, and Central America), it is also more common.

sickle cell anemia cause Diagnosis For Sickle Cell Anemia

A blood test may determine the hemoglobin shortage imposed by sickle cell disease. You can take this test as an adult, an older child, or a baby. In the US, this test is frequently included in newborn screening.

In the event that you or your child has sickle cell disease, your doctor might advise getting additional testing done.  In order to determine your risk for stroke, the doctor could suggest a specialized ultrasound.  Given that you both carry the gene, they might also recommend that you and your kid see a genetic counselor.

A test of the amniotic fluid can reveal whether your unborn child has sickle cell illness or the trait whether you or your spouse have sickle cell disease or both. Consult your physician.

Treatment For Sickle Cell Anemia

The main goals of sickle cell anemia treatment are to reduce discomfort, treat symptoms, and guard against consequences. Alternatives to therapy include medications and blood transfusions. In certain adolescents and teenagers, a stem cell transplant may be able to reverse the illness.

Medications

  • (Droxia, Hydrea, Siklos) Hydroxyurea. Regular hydroxyurea use minimizes the likelihood of unpleasant crises and may result in fewer hospital stays and blood transfusions. However, it may potentially increase the risk of infections. If you are pregnant, avoid taking the medication.
  • L-glutamine powder for oral use (Endari). This medication has just been given FDA approval to treat sickle cell anemia. It aids in minimizing the frequency of pain crises for individuals.
  • Adakveo (crizanlizumab). When given intravenously, this medicine can help both adults and children older than 16 have pain crises less frequently. Neonatal symptoms, joint discomfort, back pain, and fever are possible side effects.
  • Oxbryta’s Voxelotor. Adults and children over the age of 12 who have sickle cell disease are treated with this drug. When taken orally, this drug can improve blood flow throughout the body and lower the risk of anemia. Possible adverse effects include headache, nausea, diarrhea, tiredness, rash, and fever.
  • Medication to alleviate pain. Your doctor may prescribe opioids to help with pain management during sickle cell pain crises.

Preventing Infections

Children with sickle cell anemia between the ages of two months and at least five years old are susceptible to penicillin. This lessens the risk of infections like pneumonia, which can be lethal in children with sickle cell anemia.

If they are recovering from spleen surgery or pneumonia, adults with sickle cell anemia might require to take penicillin for the rest of their lives.

To help prevent illness, all kids should obtain their first series of vaccinations. They are of greater significance for kids with sickle cell anemia because of the possible severity of their illnesses.

The pediatrician who treats your kid should make sure that your child acquires the complete set of advised childhood vaccinations, including the annual flu shot and those for hepatitis B, pneumonia, meningitis, and meningococcal disease. Adults with sickle cell anemia require vaccinations.

Surgical and Oher Procedures – Transfusions of blood. People with sickle cell disease incorporate these treatments to treat and avoid complications, such as strokes.

During a red blood cell transfusion, red blood cells are retrieved from donor blood and given through a vein to a patient with sickle cell anemia. The amount of healthy red blood cells increases as a result, which helps to minimize symptoms and adverse effects.

Risks include being sick, contracting an immune reaction to the donor blood, which could make it challenging to recognize new donors, and having too much iron build up in your body. If you have transfusions on a regular basis your iron levels may need to be treated since too much iron can damage your heart, liver, and other organs.

Transplant of stem cells. The bone marrow affected by the sickle cell is replaced with healthy bone marrow from a donor during this procedure, also known as a bone marrow transplant. The surgical procedure usually involves using a sibling or another compatible donor who is sickle cell anemia-free.

Due to the hazards of the procedure, which include the likelihood of death, a bone marrow transplant is only recommended for people, mostly children, who have severe sickle cell anemia symptoms and consequences. Currently, stem cell transplants are the only known treatment for sickle cell anemia. Gene treatments and adult stem cell transplantation are currently the subject of clinical trials.

Reference

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