Jun 19, 2022

An Insight on Sickle Cell Disease

Many people have heard of, or perhaps know a person with Sickle Cell Disease (also known as ‘Sickle Cell Anemia’), and understand that it is a fairly prevalent genetic disorder that affects the blood. But as the term ‘anemia’ might refer to a relatively benign health condition, many people might not know of the debilitating effects it can have on a person’s quality of life.

What is Sickle Cell Disease?

Sickle Cell Disease or Anemia is a hereditary blood disorder characterized by a mutation in the genetic sequencing that forms hemoglobin, the protein that carries oxygen inside red blood cells, which causes a defect in its structure leading to sickled crescent shaped cells (Image 1). These sickled cells will tend to get stuck in narrow blood vessels causing occlusion, and are more likely to ‘hemolyze’ i.e., breakdown and reduce the blood’s overall ability to maintain oxygenation; leading to anemia. The disease is mostly prevalent in regions of Africa and the Eastern Mediterranean.

SCDSickle Cell crescent shaped blood cell

 

What are the signs and symptoms of SCD?

As it is a genetic condition, SCD presents very early on in life with the first manifestations occurring within the first 6 years and some presenting even within the first year. The hallmark of sickle cell anemia is a hemolytic crisis; this is where sickled cells break down dramatically leading to a drop in their hemoglobin resulting in severe anemia and is typically caused when the patient experiences stress such as a fever, infection, dehydration, or cold temperature.

Also, commonly, patients may experience vaso-occlusive episodes; which is when the defective sickled cells become stuck and block narrow blood vessels. This presents with pain in different areas of the body, most commonly Dactylitis which is severe pain in the fingers and also pain in the joints. Less commonly, but more painful, they can develop Acute Chest Syndrome; which is severe chest pain due to vaso-occlusion and may be mistaken for a myocardial infarction. Patients with sickle cell anemia are also prone to getting infections like pneumonia or more specifically osteomyelitis from Salmonella bacteria.

In the chronic setting, many SCD patients experience chronic pain either due to the effects of vaso-occlusion or ulcers from anemia. They usually also have chronic compensated hemolytic anemia which makes them generally more easily fatigued and tired. Of course, the overall detrimental effects of sickle cell disease bring psychological issues like depression and anxiety along with, making it imperative to always address mental health during the care for their condition.

 

Complications

There is a wide range of complications that can arise in the setting of SCD which may greatly impact the patients’ prognosis. To name a few, recurrent hemolytic crises put great pressure on the spleen’s function of regulating red blood cell turnover and can lead to extensive organ damage which may require resection of the entire spleen. The lack of splenic function, termed ‘asplenia’, renders the patient immunosuppressed, which in turn leaves them susceptible to infections, greatly hindering their quality of life.

The effects of vaso-occlusion apply to other organs as well, such as the brain, kidneys, and even eyes. Patients have a relatively high risk of developing a stroke as the sickled cells can occlude blood vessels to the brain similar to how clots do. As sickled cells obstruct the renal artery, kidney damage occurs eventually leading to renal failure. And as the retinal artery of the eye loses its oxygen supply, severe loss of vision can occur if not intervened promptly.

Pregnant women with SCD may also, unfortunately, suffer adverse effects from the disease, as the frequency of crises becomes higher during pregnancy and can lead to preterm delivery and low birth weight. Therefore, it is recommended that women with SCD receive appropriate counseling prior to conception.

 

Sickle Cell Trait vs. Anemia

In order to develop the symptoms of sickle cell anemia, the individual must have two copies of the sickle cell gene (named ‘alleles’), but when a person has only one allele they are deemed as ‘Sickle Cell Trait’ meaning they carry the genetic potential for SCD but are asymptomatic themselves. This phenomenon is what people often refer to as “skipping a generation”, where the children of a parent with SCD may not necessarily develop SCD themselves.

In countries where SCD is prevalent, like Bahrain, targeted measures are taken to help identify and promptly manage SCD patients in an effort to improve patient outcomes and prognosis. One of the main purposes of pre-marital health certificates is to identify sickle cell inheritance patterns so that couples may receive the appropriate counseling regarding the future outcomes of their offspring. There are also standardized neonatal screening programs that test for a wide range of diseases including SCD through genetic testing by obtaining­­­ a small blood sample from the baby. Added to that, many hospitals have dedicated inherited blood disorders centers to deliver personalized care to these patients.

SCD trait

Sickle Cell trait

 

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This article's references:

  1. Vichinsky, Elliot P et al. "Overview Of The Clinical Manifestations Of Sickle Cell Disease". Com, 2022.
  2. Org. Sickle Cell Anemia - Causes, Symptoms, Diagnosis, Treatment, Pathology. https://www.osmosis.org/learn/Sickle_cell_disease_(NORD)?from=/md/organ-systems/hematological-system/pathology/anemias/hemolytic-normocytic-anemias. Accessed 15 June 2022.
  3. Al Arrayed, Shaikha, and Amani Al Hajeri. “Public awareness of sickle cell disease in Bahrain.” Annals of Saudi medicine 30,4 (2010): 284-8. doi:10.4103/0256-4947.65256
  4. Al Arrayed, Sheikha, and Neva Haites. "Features Of Sickle-Cell Disease In Bahrain". World Health Organization - Regional Office For The Eastern Mediterranean, 1995, http://www.emro.who.int/emhj-volume-1-1995/volume-1-issue-1/article13.html.
  5. Schultz CL, Tchume-Johnson T, Jackson T, Enninful-Eghan H, Schapira MM, Smith-Whitley K. Reproductive intentions in mothers of young children with sickle cell disease..Pediatr Blood Cancer .2020; 67(5): p.e28227. doi: 1002/pbc.28227

 

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