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UNDERSTANDING SICKLE CELL DISEASE: A GENETIC PATHOLOGY

by TNH
September 25, 2022
in News
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UNDERSTANDING SICKLE CELL DISEASE: A GENETIC PATHOLOGY

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Sickle cell disease (SCD) is a pathology occurred in the collection of a genetic red blood cell. Haemoglobin is a protein found in red blood cells that functions as an oxygen carrier. Round and healthy red blood cells travel via tiny blood channels to deliver oxygen to every region of the body. In a person with SCD, the haemoglobin is defective, which makes the red blood cells stiff and sticky and resemble the “sickle,” a C-shaped farm implement. Red blood cells are constantly in insufficient supply due to the early death of sickle cells. Additionally, they become caught and obstruct the flow of blood when they pass through tiny blood arteries. This may result in discomfort as well as more severe health issues such as an infection, acute chest syndrome, and a stroke.

Table of Contents hide
1 The following are the most typical SCD types:
2 The following are simple measures to prevent dangerous infections:
3 Specific Therapies to Prevent Complications from SCD

The following are the most typical SCD types:

HbSS

Two genes that code for haemoglobin “S” are inherited by people with this kind of SCD, one from each parent. The aberrant form of haemoglobin known as haemoglobin S makes red blood cells stiff and sickle-shaped. This condition, often known as sickle cell anaemia, is typically the most serious one.

HbSC

When a person has this type of SCD, they inherit the “S” gene for haemoglobin from one parent and the “C” gene for a different type of defective haemoglobin from the other. Typically, SCD manifests in a milder form.

HbS beta thalassemia

The “S” gene for haemoglobin and the beta thalassemia gene, a different type of haemoglobin abnormalities, are inherited from one parent and the other parent, respectively, by people with this form of SCD. Beta thalassemia comes in two forms: “zero” (HbS beta0) and “plus” (HbS beta+). SCD in HbS beta0-thalassemia patients is typically very severe. SCD in HbS beta+-thalassemia patients is typically a less severe type.

HbAS for Sickle Cell Trait (SCT)

A normal gene (one that codes for haemoglobin “A”) and a haemoglobin “S” gene are inherited from one parent and the other, respectively, by individuals with sickle cell trait (SCT). Typically, SCT patients don’t exhibit any illness symptoms. A person with SCT may, on rare occasions, experience health issues; these are most frequently brought on by additional physical pressures on the body, such as dehydration or severe activity. SCT patients can also pass on the defective haemoglobin “S” gene to their offspring.

Reason for SCD

Sickle cell disease
Image source: istockphoto.com
Photo by: Dr_Microbe

SCD is a hereditary condition that manifests from birth. When a child receives two genes—one from each parent—that encode for it, it is inherited.

Diagnosis

SCD is identified via a quick blood test. The majority of the time, it is identified in newborns born in the United States through normal newborn screening tests at the hospital. SCD can also be identified while the unborn child is still in the womb. Before the baby is born, diagnostic procedures like chorionic villus sampling and amniocentesis can examine the infant for chromosomal or genetic problems. A little portion of the placenta known as the chorionic villus is tested during chorionic villus sampling. A little bit of the amniotic fluid surrounding the foetus is tested during amniocentesis.

Early identification and treatment are crucial since children with SCD have a higher risk of infection and other health issues.

Complications

SCD patients may begin to exhibit symptoms in the first year of life, typically around the age of five months. Each person will experience SCD differently, with varying degrees of moderate to severe symptoms and problems.

Defending against and treating SCD complications

Typical Prevention Techniques

The prevention and treatment of pain episodes and associated consequences are the main goals of SCD management. Lifestyle changes, medical screening, and therapies are all part of the prevention process for SCD problems.

Lifestyle Practices

People with SCD can take easy precautions to help prevent and lessen the frequency of pain crises, such as the following:

  • Take in a lot of water.
  • Avoid becoming too heated or too cold.

The following are simple measures to prevent dangerous infections:

  • Regularly wash your hands. One of the best ways people with SCD, their family members, and other caregivers can help avoid infection is by often washing their hands with soap and clean water.
  • Safely prepare food. For kids with SCD, bacteria can be very hazardous.
  • Interventions & Medical Screenings to Reduce SCD Complications

infection prevention

Vaccines can shield you from dangerous illnesses. SCD patients must receive all the routine childhood vaccinations. The flu vaccine, pneumococcal vaccine, and any other vaccines prescribed by a doctor should all be received annually by both children and adults.

When given early, penicillin has been proven to be significantly more beneficial at lowering infection risk in people with HbSS. Young children with HbSS should take penicillin (or another antibiotic recommended by a doctor) every day until they are at least five years old to reduce their risk of infection. Children with various medical conditions are typically not prescribed penicillin daily.

Vision Loss Prevention

For persons with SCD, yearly eye exams are essential to check for retinal damage (the area of the eye that detects light and transmits images to the brain). It’s advisable to visit an eye specialist who specialises in retinal problems if at all possible.

Laser treatment can frequently stop additional vision loss in cases where the retina has been harmed by excessive blood vessel expansion.

Defending against stroke

Transcranial Doppler ultrasound is a specialised test that can be used to identify children who are at risk for stroke (TCD). A doctor might advise regular blood transfusions (a technique in which fresh blood is infused into a person’s body using a thin plastic tube inserted into a person’s blood arteries) if the youngster is determined to have an abnormal TCD to assist prevent a stroke.

Blood transfusion recipients are typically constantly monitored because there could be major side effects. For instance, since blood contains iron, transfusions may produce a disease called iron overload, in which the body stores an excessive amount of iron. The liver, heart, and other organs may suffer potentially fatal damage as a result of iron overload. 

As a result, it’s critical for SCD patients receiving frequent blood transfusions to also undergo care to lower high iron levels in the body. Iron chelation therapy is the name for this kind of care.

Avoiding Serious Anemia

Anaemia with severe symptoms may be treated with blood transfusions. A common justification for a transfusion is a sudden deterioration of anaemia brought on by an illness or an enlarged spleen (an organ in the upper left part of the abdomen).

Frequent blood transfusions can lead to iron overload, and iron chelation therapy may be necessary to remove too much iron in the body, much as it is with preventing strokes.

Controlling pain crises

Clinical management of pain crises may involve the following:

Fluids are administered intravenously (into a person’s vein)

Painkilling medication

Admission to a hospital for severe pain crises

Specific Therapies to Prevent Complications from SCD

SCD is a condition that gets worse with time. Some treatments can stop complications from occurring and extend the lives of people with this illness. Depending on the symptoms and severity of the condition, these treatment choices and their outcomes can vary from person to person. Understanding the advantages and disadvantages of each therapy choice is crucial. Four SCD therapies are currently FDA-approved[1].

People with SCD 2 years of age and older may benefit from hydroxyurea (pronounce it “hi-DROK-see-yoo-REE-uh”).

ENDARI® or L-glutamine, which is pronounced “L-gloo-ta-meen,” may benefit those with SCD who are 5 years of age or older.

People with SCD aged 4 and older may benefit from Voxelotor, also known as OXBRYTA® (pronounced “vox-EL-o-tor”). 

Crizanlizumab, also known as ADAKVEO®, may benefit SCD patients 16 years of age and older.

Cure

A bone marrow or stem cell transplant is the only treatment recognised by the FDA as having the potential to treat SCD.

Blood cells are created in the soft, fatty tissue called bone marrow, which is located in the core of the bones. A bone marrow or stem cell transplant involves taking healthy blood-forming cells from one person—the donor—and transferring them to a patient whose bone marrow isn’t functioning properly.

Transplants of bone marrow or stem cells carry a high risk of major negative side effects, including death. The bone marrow needs to be a close match for the transplant to be successful. Typically, a sibling or sister makes the ideal donor. In cases of severe anaemia, bone marrow or stem cell transplants are most frequent.

TNH

TNH

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