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Sickle Cell Disease (SCD)



Sickle Cell Disease Research

The first discovery of sickle cell disorder was documented in the early 1900s. Patients suffering from this disease experience pain caused by the blockage of the tiny blood vessels (Bloom, 2009). Sickle cell disease is caused by abnormal hemoglobin, also known as hemoglobin S. Among various diseases studied at the biochemical level, sickle cell disease was the first to be fully understood. Research shows that abnormal hemoglobin changes its shape because of a single amino acid error in hemoglobin S (Ngo & Steinberg, 2014).

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The process of interpreting disease awareness into improved patient care has been slow, even though the molecular cause of the illness was discovered many years ago. The Sickle Cell Disease Association of America was established in the 1970s, following the health research in the deprived population in the United States that revealed how this population was neglected and poorly treated.

In 1972, the Sickle Cell Anemia Control Act was enforced; therefore, allowing allocation of the state health funds for treatment programs, research, and screening. During the last decade, sickle cell researchers have made progress in identifying pulmonary hypertension as a fundamental life-threatening complication of the disease, which provided new ways to find out causes of genetic changes of other disease complications, and enhanced outpatient programs for pain control. This paper will discuss sickle cell disease, lab tests, and their results.

Sickle Cell Test and Results

A sickle cell test is a blood test carried out to determine if an individual has sickle cell trait or sickle cell disease (Bloom, 2009). These are an inherited group of red blood cell disorders (Ngo & Steinberg, 2014). Sickle cell test is one of the routine screenings performed on a newborn baby (Rees, Williams, & Gladwin, 2010). However, even adults and older children undergo screening when necessary. Individuals with a sickle cell disorder have abnormally shaped red blood cells- a crescent moon shape, instead of the shape of a donut (Bloom, 2009). The blood becomes sticky and hard, often increasing the risk of blood clots (Bloom, 2009).

Nevertheless, they die off early, hence causing constant red blood cell shortage. Persons with sickle cell traits are genetic carriers of sickle cell disorder (Rees, Williams, & Gladwin, 2010). Individuals with sickle cell trait cannot acquire sickle cell infection, but they can pass it on to their offspring without suffering from the symptoms (Rees, Williams, & Gladwin, 2010).

An early sickle cell diagnosis is essential. Newborns are the first who require a sickle cell test (Bloom, 2009). It is important to carry out early tests to ensure newborns with sickle cell disease get a suitable treatment that can protect their health (Ngo & Steinberg, 2014). Also, any person showing symptoms of the disorder should take the test, especially children who have not undergone the test and moved from one country to another, and immigrants who have not had the test in their native countries (Gladwin & Vichinsky, 2008).

Hemoglobinopathy evaluation is another test performed to screen, diagnose, and confirm the presence of sickle cell disease (Bloom, 2009). This analysis helps to measure different types of abnormal and normal hemoglobin. With the help of this method, it is possible to carry out various tests, such as isoelectric focusing, hemoglobin electrophoresis, and hemoglobin electrophoresis (Bloom, 2009).

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The sodium metabisulfite and hemoglobin S solubility test is yet another test for screening sickle cell anemia (Hoffman et al., 2013). A chemical is added to a patient's blood sample to lower the present oxygen and screen hemoglobin S. Abnormal sickle form cells develop after the level of oxygen lowers (Rees, Williams, & Gladwin, 2010). This test method does not differentiate between sickle cell trait and disease. Infants are not eligible for this test until they are six months old since hemoglobin F is the principal hemoglobin at birth (Ngo & Steinberg, 2014).

DNA analysis is yet another sickle cell screening test (Bloom, 2009). The DNA test helps in investigating mutations and alterations in the genes that yield hemoglobin components. The test determines if an individual has two various mutations in Hb genes, a single kind or double kinds of hemoglobin S mutations (Ngo & Steinberg, 2014).

A blood smear is a test performed for monitoring the treatment of patients with sickle cell disease (Ngo & Steinberg, 2014). A qualified lab technologist studies the thin layer of blood under a microscope, then the type and number of red blood cells are contemplated to conclude if they are normal. The presence of sickle-shaped RBCs can be noticed on the blood smear (Rees, Williams, & Gladwin, 2010).

During a sickle cell test, a practitioner will require a blood sample to test for sickle cell disease (Howard & Telfer, 2015). A caregiver will place an elastic band around the patient’s upper arm to ensure the vein swell with blood, and then insert a needle into the vein. When there is enough blood, the lab technician will remove the needle and bandage the wound (Hoffman et al., 2013). When testing infants, the caregiver uses a sharp object referred to as a lancet to puncture their skin on the finger or heel. The blood is collected on a test strip or slide (Bloom, 2009).

Complications associated with the sickle cell test are uncommon (Gladwin & Vichinsky, 2008). After the test, the patient might feel dizzy, but the feeling goes away when they rest for a while. Also, the consumption of snacks helps to overcome dizziness. The puncture wound on the skin becomes infected extremely rarely because the alcohol swab used before the injection prevents infections. In a case there is a bruise on the injected area, it is advisable to apply a warm compress (Gladwin & Vichinsky, 2008).

During the test, the lab technician examines the blood sample for an abnormal form of hemoglobin referred to as hemoglobin S. Red blood cells carry proteins known as regular hemoglobin (Bloom, 2009). Regular hemoglobin picks oxygen in the lungs and supplies it to various organs and tissues in the body. Abnormal hemoglobin creates sickle-shaped red blood cells that cause sickle cell disease (DeBaun & Telfair, 2012). It is possible to compare all proteins because an individual’s DNA has blueprint hemoglobin that is stored in genes. Even changes in a single gene alter the behavior of hemoglobin (Hoffman et al., 2013).

The sickle cell test aims to find the hemoglobin causing sickle cell disease. When the test result is negative, it means that the hemoglobin is normal, (Ngo & Steinberg, 2014) while a positive test result indicates the presence of sickle cell trait or disease. If the patient’s test is positive, the medical practitioner will conduct a test known as hemoglobin electrophoresis that helps in finding the condition (Rees, Williams, & Gladwin, 2010). Sickle cell disease can be detected when the test shows two abnormal hemoglobin genes. Whereas, the lack of symptoms and one abnormal gene are likely to be diagnosed as sickle cell trait (Bloom, 2009).

After the test, the patient will be capable of driving home and performing daily activities normally. The physician discusses the test results with the patient. When the results indicate the patient has sickle cell trait, more tests are carried out before suggesting a diagnosis (Hoffman et al., 2013). If the person is diagnosed with sickle cell disease, they and the caregiver will work together to come up with a favorable treatment plan (Steinberg, Forget, Higgs, & Weatherall, 2009).


Sickle cell disease is diagnosed by testing a blood sample under a microscope (Steinberg, Forget, Higgs, & Weatherall, 2009). If an abnormal sickle-shaped cell is identified in the blood, a diagnosis is carried out. Besides, hemoglobin electrophoresis, a blood test, helps to determine if an individual is a carrier or has the disease (Ngo & Steinberg, 2014). With the help of such blood tests, people who are unaware of their sickle cell hemoglobin or abnormal hemoglobin can find out about their status (DeBaun & Telfair, 2012).

Therefore, they learn if they carry an abnormal hemoglobin gene that can be inherited by their offspring. With this information, every parent is well informed about their chances of having children with various kinds of sickle cell disorders, such as hemoglobin SB, SC, SS thalassemia (Bloom, 2009).

Sickle cell disease can also be diagnosed through screening newborns (Hoffman et al., 2013). It is vital to diagnose sickle cell disease as early as possible to avoid complications in case a newborn has sickle cell disorder. As part of the newborn screening program, every state in the U.S and its territories requires that all infants be tested for sickle cell disease (Hoffman et al., 2013). According to newborn screening programs, Blood is collected on special paper from a heel prick, and the blood hemoglobin is then examined in a specialized laboratory.

The testing results are later forwarded to the baby’s primary physician and medical practitioner who ordered the test. In instances where the newborn is diagnosed with sickle cell disease, doctors from a particular follow-up newborn screening group communicate directly to the family to ensure the parents are aware of the results (Bloom, 2009). However, the infant is normally retested to confirm the diagnosis. Programs on newborn screening also establish the existence of abnormal hemoglobin traits in a child (Hoffman et al., 2013).

If the presence of abnormal hemoglobin is positive, parents are offered to counsel. An infant with sickle cell trait or disease risks having offspring who suffer from the same condition (Rees, Williams, & Gladwin, 2010). All the possibilities are discussed with the main doctor, a genetic counselor, and a blood specialist known as the hematologist.

Sickle cell disease can be diagnosed through prenatal screening (Hoffman et al., 2013). The test is conducted through a sample of amniotic fluid, the liquid inside the bag surrounding the embryo (Ngo & Steinberg, 2014). The test can be carried out at the early stages of pregnancy, namely the first 8-10 weeks. Prenatal screening finds the sickle hemoglobin gene instead of abnormal hemoglobin (O'Malley, 2006).


Sickle cell disease is caused by the change of certain kinds of hemoglobin chains in red blood cells (DeBaun & Telfair, 2012). The mutation develops in the structuring of normal hemoglobin of sickle cell disease. The changed molecules lack the smooth motion required for deoxygenation and oxygenation (O'Malley, 2006). In case the concentration of blood oxygen is low, red blood cells change their shape. As a result, a red blood cell becomes rigid and stiff and cannot move smoothly through narrow blood vessels (Bloom, 2009).

Sometimes sickled red cells pile up in small blood vessels called capillaries. This makes red blood cells incapable of carrying oxygen to tissue, thus causing death and injury of tissues. Patients with sickle cell disease experience pain (Bloom, 2009). The sickle cell gene is transmitted from one generation to the other in an inheritance pattern known as an autosomal recessive inheritance (Howard & Telfer, 2015). A child acquires sickle cell trait only if one parent passes the gene containing it (Steinberg, Forget, Higgs, & Weatherall, 2009). Individuals with sickle cell trait have both sickle cell hemoglobin and normal hemoglobin and one defective character of the gene and one normal hemoglobin gene accordingly (Bloom, 2009).

Their blood might comprise some sickle cells without experiencing symptoms. Nevertheless, they are carriers of the disease, hence, can transmit the defective gene onto their offspring (Rees, Williams, & Gladwin, 2010). Every two pregnant women with sickle cell traits have a 25% chance of having a baby with this condition, a 50% chance of having a baby who also is a carrier, and a 25% chance of having an unaffected infant with normal hemoglobin (Ngo & Steinberg, 2014).


As a rule, symptoms do not appear until a child is almost four months old (Steinberg, Forget, Higgs, & Weatherall, 2009). The symptoms may include anemia and fragile sickle cells, they quickly fall apart and die, leaving a person without a good supply of red blood cells (Howard & Telfer, 2015). Red blood cells exist for almost 120 days then they die, thus their stock needs a constant supply. However, on average, sickle cells live less than 20 days (Bloom, 2009). That implies the scarcity of red blood cells and worse circulation of red blood cells; hence, the body becomes weak due to the lack of oxygen it requires (Hoffman et al., 2013). This is the main reason why this condition causes fatigue.

Another symptom of sickle cell disease is vision problems. Nearly every person with this condition experiences vision problems (Gladwin & Vichinsky, 2008). The minute blood vessels supplying the eye might become plugged with sickle cells, injuring the retina.

Frequent infections are yet another symptom of sickle cell disease. The tissue that fights infections also known as the spleen can be damaged by sickle cells (Gladwin & Vichinsky, 2008). Therefore, the patient becomes more vulnerable to infections. Caregivers provide children and infants with sickle cell antibiotics and vaccination to prevent dangerous infections like pneumonia (Hoffman et al., 2013).

Another symptom of sickle cell disease is pain (Gladwin & Vichinsky, 2008). Pain occurs when red blood cells that have a sickle form block the flow of blood through tiny blood vessels to the joints, abdomen, and chest (Hoffman et al., 2013). The patient may also experience pain in the bones. The intensity of pain varies and can proceed for weeks or hours. Some people undergo more than one crisis in a year. A severe crisis requires a doctor’s attention (Steinberg, Forget, Higgs, & Weatherall, 2009).

Delayed growth is yet another symptom of sickle cell anemia (Rees, Williams, & Gladwin, 2010). Red blood cells provide the body with the nutrients and oxygen it requires for growth. Insufficient red blood cells might slow growth in children and infants and delay puberty in teenagers (Gladwin & Vichinsky, 2008).

Hand-foot syndrome is yet another symptom of sickle cell disease (Gladwin & Vichinsky, 2008). In infants, swelling of feet and hands might be the first signal. The swelling occurs because sickle-shaped red blood cells obstruct the flow of blood out of the baby’s feet and hands (Ngo & Steinberg, 2014).

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Sickle cell treatment is usually performed to prevent complications, avoid crises, and relieve symptoms (Hoffman et al., 2013). The only potential cure for anemia is the transplantation of bone marrow. However, donors are rare to find and the procedure itself can be deadly. Regular doctor visits are also advisable (Steinberg, Forget, Higgs, & Weatherall, 2009). Practitioners help in monitoring red blood cell count and checking the patient’s general health. Other treatments may include blood transfusions, supplemental oxygen, and medication to inhibit complications and reduce pain (Hoffman et al., 2013).

Medications such as antibiotics, hydroxyurea, and pain-relieving medications are used to treat sickle cell anemia (O'Malley, 2006). Various experimental treatments that are being studied include the following methods and medicines.

  1. First, statins help to reduce cholesterol and minimize inflammation. This drug boosts fetal hemoglobin production.
  2. Second, researchers are trying to enhance fetal hemoglobin production that prevents sickle cells from growing.
  3. Third, Nitric oxide is used because it is a gas that keeps blood vessels open and decreases the adhesiveness of red blood cells.
  4. Fourth, there is gene therapy, which presupposes the insertion of a normal gene inside the bone marrow of the ill person to boost the production of normal hemoglobin (Wood, Hsu, & Gladwin, 2008; O'Malley, 2006).

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Sickle cell disease is inherited and affects hemoglobin. Individuals with this condition have a distinctive molecule that makes red blood cells change their shape, which means they cannot supply the body with enough amount of oxygen. This hemoglobin molecule is known as hemoglobin S. The symptoms of the disease in infants are hard to notice until the child is about a few months old. Most sickle cell disorders are genetic. Thus, it is essential to diagnose newborns to prevent the disease or manage it as early as possible. Appropriate treatment prevents complications, relieves symptoms, and helps to avoid crises.

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