Sickle Cell Disease

Sickle cell disease (SCD) is the most common hereditary benign blood disorder. The term sickle cell disease (SCD) actually refers to a group of inherited red blood cell disorders. There are different forms of sickle cell disease, of which sickle cell anemia (SCA) is the most common and severe.

Causes of SCD

Hemoglobin is a protein molecule in the red blood cells which carries oxygen from the lungs to the rest of the body. This molecule contains iron and is found outside red blood cells and their progenitor lines. Normally, the hemoglobin molecule has two alpha chains and two beta chains. When both parents carry the gene for the defective hemoglobin chains, an offspring will inherit one of these genes from each parent; invariable ending up with two abnormal hemoglobin genes. At least one of these two abnormal genes will cause the body to make an abnormal hemoglobin molecule known as hemoglobin S (HbS).  

When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia.

Pathophysiology

The abnormal protein molecule, HbS is sensitive to oxygen deficiency. When the red blood cells that carries HbS release oxygen to body tissues, leading to a reduction in the cell’s oxygen concentration, HbS, unlike normal hemoglobin molecules (HbA), pile up within the red cells in threads that twist into spiral rods.

These spiral rods align into bundles that distort and elongate the cells, causing them to become peculiar and sickle-shaped; hence the term “sickle cell” anemia.  

Once the cells become re-oxygenated, this occurrence is able to reverse. However, the repeated sickling and de-sickling cycle causes the red blood cells to become irreversibly distorted. 

These distorted, sickle-shaped cells back up in small blood vessels; unable to easily flow through these vessels. This physiology, in turn, causes an obstruction of the microcirculation, which results in damage to and destruction of tissue.

Risk Factors for SCD

The risk of having sickle cell disorder occurs when an individual inherits one sickle cell gene and one other type of defective hemoglobin gene. When an individual inherits one defective hemoglobin S gene and one normal hemoglobin A gene, these individuals are said to have sickle cell trait. Symptoms of sickle cell disease may not be present and may not make sickled blood cells. However, these individuals have a (50%) chance of passing the defective hemoglobin S gene on, through their offspring.

Symptoms of SCD

Sickle cell disease can cause a wide range of symptoms which may start to present from a few months of age.

Sickle cell crises

Sickle cell crises describe episodes of pain, one of the most common and stressful symptoms of sickle cell disease. This occurs when blood vessels become blocked by the distorted red blood cells. Sickle cell crisis often affects a particular part of the body such as hands or feet, ribs and breastbone, spine, pelvis, stomach, legs and arms. The frequency and severity of these pain episodes vary among sufferers.

Infections

People with sickle cell disease tend to be more susceptible to infections. This is because the condition can compromise the body’s immune system. Infections that may occur can range from mild infections such as colds, to much more serious and potentially life-threatening ones such as meningitis.

Anaemia

Anemia occurs when the hemoglobin in the blood is low. This doesn't usually cause many symptoms, but may sometimes worsen, causing additional symptoms such as headaches, a rapid heartbeat,dizziness and fainting.

Other problems may include:

• delayed growth and  delayed puberty
• gallstones
• bone and joint pain
• priapism
• leg ulcers 
• strokes or transient ischemic attacks 
• acute chest syndrome causing a fever, cough, chest pain, and breathing difficulties
• vision problems
• pulmonary hypertension
• kidney or urinary problems, including blood in the urine and bedwetting

Sickle cell cannot be cured. The aim should be to reduce severity and frequency of symptoms.

Diet

A nutrient rich diet will help to balance blood sugar levels, strengthen immunity, and promote optimal physiological functions, including the regulation of red blood cell production and metabolism. The right foods can help increase the number of red blood cells in the body; especially foods high in Thiocyanate, an anti-sickling agent and a potent antioxidant. Foods high in this substance include almonds, banana, black eye peas, brussel sprouts, buckwheat, butter beans, cassava, cauliflower, garbanzo beans, peanuts, plantain, raspberries, rutabaga, and turnips.

Massage Therapy, Acupuncture and Aromatherapy

Managing pain is one of the biggest challenges for people suffering from sickle cell anemia. Although pharmacological therapies and typically, opioids for pain management are often prescribed to people with the disease, these are known to have harmful effects, especially with the potential for opioid abuse.

Experts recommend the use of interdisciplinary therapies to include non-pharmacologic therapy to help with pain management.  

Massage therapy – An expression of the potential power of massage therapy was emphasized by a research team at the University of Florida (UF) in Gainesville, supported in part by a grant from the American Massage Therapy Association Foundation. The team initiated a pilot study to determine the benefits of massage therapy for the management of pain associated with sickle cell anemia. Participants randomly assigned to either a massage therapy (MT) group or muscle relaxation with guided imagery (PMR+) group. The results were shown to have improved the severity of pain episodes significantly.

Acupuncture is accepted as a valid adjunct for treating joint disorders and pain syndromes. Co et al., evaluated 16 acute painful crises experienced by 10 sickle cell patients. Patients in the study achieved pain relief in 15 of 16 acute pain episodes after receiving acupuncture.

Aromatherapy - Research corroborates the use of aromatherapy for pain relief and is a commonly known relaxation technique.

Supplements 

Omega-3 fatty acids/fish oil supplements. Study's have found that treatment of sickle cell anemia with omega-3 fatty acids reduced the frequency of pain episodes and episodes of pain requiring hospitalization. Fatty acids also reduced the frequency of severe anemia.

Folic acid. In contrast to the 120-day average lifespan for normal red blood cells, sickled cells only survive an average of 10-20 days. This often leads to folate depletion due to the high cell turnover. Folic acid replenishes the depleted folate stores necessary for the production of red blood cells and is well established in the treatment of chronic hemolytic anemia.

l-arginine. In addition to having a deficiency of nitrous oxygen, adults with sickle cell anemia sometimes have significantly diminished arginine levels. This arginine deficiency may be the cause of pulmonary hypertension in sickle cell patients;  l-arginine has been shown to reduce vascular resistance and improve blood oxygenation in people with pulmonary hypertension. 

l-Glutamine is a precursor for nicotinamide adenine di-nucleotide (NAD), which can be deficient in patients with sickle cell anemia; causing skeletal muscle wasting, immunosuppression and impaired wound healing. Oral l-glutamine therapy can help the body to produce adequate amounts of NAD, thus countering the oxidant-dependent pathophysiology of sickled red blood cells. L-glutamine may also aid with an overall improvement in energy, increased activity level and decrease in chronic pain.

Magnesium - has shown to reduce the number of dense red blood cells and improved and reduces red blood cell dehydration.

Sickle cell anemia symptoms can be helped using pharmaceutical and natural therapies. It is important to consult with a medical professional before taking any supplements.

References

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