Sickle Cell Symptom #2 - Infections : Effects and Prevention

Continuing our discussion on infection, last week we found out why Sickle Cell Warriors are highly predisposed to infections.If you missed it, you can read it HERE.

Speaking from personal experience, infections are no fun. The body becomes very sluggish and crisis ensues. Afterwhich many Sickle Cell Warriors fall ill admitted in hospital, pumped full of antibiotics. When an infection enters the body, the sickle cell warrior is compromised. What I mean to say is, the body directs all its defenses and energies towards destroying the foreign pathogen making it vulnerable and weak.

Borrowing from Catherine Booth, Baba Inusa and Stephen K. Obaro who wrote an article about infection and Sickle Cell on the International Journal of Infectious Diseases, they tell us what an infection does to the body of a Sickle Cell Warrior.

They say that, during infection with any pathogen, changes occur at a cellular level, which predispose to crises. Levels of circulating leukocytes and inflammatory cytokines increase, with elevated expression of adhesion molecules on both the blood vessels and leukocytes themselves. This occurs locally in infected tissues and systemically. Local acidosis and hypercapnia (increased CO2) in areas of inflammation increases the Hb oxygen, promoting unloading of oxygen from Hb and thus increasing sickling.

The sickling process is initially reversible when HbS is reoxygenated, but dehydration of RBCs increases HbS concentration, promoting extensive polymerization (cell adherence) and causing irreversible membrane damage. These poorly deformable dense cells contribute particularly to vaso-occlusion (vessel obstruction), adhering readily to leukocytes (white blood cells) and endothelium, and also undergo hemolysis (Red blood cell destruction).

In addition, infections can have more non-specific effects on the host physiological milieu, which increase the risk of sickling. Fever with water loss due to sweating, anorexia, and nausea with reduced oral fluid intake, diarrhea, and vomiting all contribute to dehydration. Renal impairment in SCD causes poor urinary concentrating ability, so plasma osmolarity (osmotic concentration) can rise, promoting RBC dehydration. The stress and emotional response, accompanied by neural and hormonal changes, may also play a role.

Sickle Cell Anaemia Infection Prevention #10003

Common pathogens associated with infection in sickle cell anemia with underlying mechanisms for predisposition

Pathogen and Predisposing factors

Encapsulated bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Neisseria meningitidis, Salmonella spp) - Impaired splenic function & Impaired opsonization (bacteria destruction)

·         Salmonellae               - Recurrent vaso-occlusion with intestinal infarct, necrosis and increased gut                                           permeability & Decreased neutrophil (white blood cell) killing
·         Malaria                - Decreased deoxyhemoglobin solubility
·         Parvovirus           - Increased red cell turnover
·         Hepatitis B, C      - Multiple blood transfusion
·         Chlamydophila    - Unknown
·         Yersinia enterocolitica - Iron overload
·         Mycoplasma        - Unknown
Edwardsiella tarda - Increased intestinal permeability and biliary sludging

Prevention

Simple general measures are important in reducing the risk of infection, though the aim is to ensure as normal a lifestyle as possible. Meticulous attention to hygiene, particularly hand-washing, is vital, and to protect against Salmonella, patients are advised to cook food thoroughly, particularly chicken and eggs, keep items refrigerated, and avoid contamination. Nutritional supplementation with zinc has been reported to reduce infection risk, improve growth rates in SCD children, and possibly improve skeletal and sexual maturation as well as having psychological benefits. Early identification of infections is another key area, enabling prompt initiation of treatment to reduce complications. Parents are encouraged to monitor their children closely at home and seek advice if they have a fever or respiratory symptoms, while maintaining good hydration. There should be a low threshold for the use of antibiotics in ill children with SCD, particularly in the presence of chest signs or symptoms, which may herald ACS(Acute Chest Syndrome).

I hope behind the biological jargon, you all learned something. I promise to make it easier to digest next time. If there is any question or comment with regards to infection and sickle cell, post it below on the comment section.

Otherwise, until next time. Stay healthy and,


Love Life!
Lea

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Sickle Cell Symptom #2 - Infections

HI

My name is Lea and I have Sickle Cell Disease.

Ever since I was born i was handled with the utmost care so as ot to "break"

This meant, I never was allowed to do anything crazy like swimming, hiking, standing in the sun, eating outside home etc. While sometimes I may look back and think "wow! my parents were crazy paranoid" , I always feel a sence of gratiude for the best they did with the information they had at that particular time.

When you have Sickle Cell, your body is compromised from the get go. What do i mean? Okay, its quite simple. Knowing the nature of the disease; the sickling , destruction of red blood cells, anemia, reduced supply of oxygen and not to mention the extra amount of work the body has to do to ensure proper growth and development with its very little and stretched resources, the body is left defenseless. From the first doctors visit, a dose of penicillin is prescribed to up those defenses. However, this still doesnt hide the fact that Sickle Cell Warriors are quite suceptible to infections. 

From an article by Catherine Booth, Baba Inusa, Stephen K. Obaro on the International Journal Of Infectious Diseases , this is what I found out.

Infection is a significant contributor to morbidity and mortality in sickle cell disease (SCD). The sickle gene confers an increased susceptibility to infection, especially to certain bacterial pathogens, and at the same time infection provokes a cascade of SCD-specific pathophysiological changes. Historically, infection is a major cause of death in SCD, particularly in children, and it was implicated in 20–50% of deaths in prospective group studies over the last 20 years. Worldwide, it remains the leading cause of death, particularly in less developed nations. In developed countries, measures to prevent and effectively treat infection have made a substantial contribution to improvements in survival and quality of life, and are continually being developed and extended. However, progress continues to lag in less developed countries where the patterns of morbidity and mortality are less well defined and implementation of preventive care is poor.  SCD increases susceptibility to infections and the underlying mechanisms for susceptibility to specific pathogens.

Since you all know the clinical manifestations of SCD result from two key processes: vaso-occlusion (blood vessel obstruction by sickled red blood cells) and hemolysis (break down of red blood cells). Sickle cells, along with non-sickled RBCs, leukocytes, and platelets, form cell groups, which adhere to the vascular endothelium, causing obstruction of small blood vessels. This tiny circulatory obstructions lead to acute and chronic tissue damage and death, with multisystem effects, particularly in bone, lungs, brain, kidneys, and spleen.

Causes of Infection in SCD #10003 

Causes of Infection in Sickle Cell Disease

Impaired Spleen Function

The spleen has a key role in the increased susceptibility to certain bacterial infections seen in SCD. It functions as a phagocytic (protective cells i.e. white blood cells) filter, removing old and damaged cells and blood-borne microorganisms, and also produces antibodies. Individuals with SCD typically suffer from reduced and in some cases, lack of splenic function. The sluggish circulation through the spleen, high rates of O2 extraction, and local acidosis cause deoxygenation of HbS, promoting sickling, which leads to congestion and swelling of the sinusoids of the spleen with sickled cells. This can cause diversion of blood within the spleen, bypassing the normal filtering mechanisms. Macrophages (large stationary white blood cell) engulfing the abnormally shaped cells may become ‘blocked’, impairing their phagocytosis (ingestion of bacteria) of other particles.

Individuals with SCD hence they cannot mount a rapid specific response to captured organisms. Local infections can readily become systemic and this, in combination with the loss of the spleen's filtering function, can permit overwhelming sepsis (presence in tissues of harmful bacteria and their toxins, typically through infection of a wound) to develop. The main pathogen of concern is S. pneumoniae, though severe and systemic infections with H. influenzae, Neisseria meningitidis, and salmonellae also occur. Before preventive measures, children with SCD were 30–600 times more likely to develop invasive pneumococcal disease (IPD), including pneumonia, meningitis, and septicemia. Overwhelming sepsis can develop rapidly with no obvious primary source of infection, resulting in shock, disseminated intravascular coagulation, adrenal hemorrhage, and death within 24 to 48 hours. Mortality can reach 35–50% from septicemia and 10% in meningitis. The risk is confined almost exclusively to young children, with a reported incidence of 5.8 per 100 in children aged less than 3 years, 1.1 per 100 in those aged 5–9 years, and 0.6 per 100 in those aged over 10 years in the pre-treatment era.

While it is theoretically conceivable that children affected by SCD in malaria hyper-endemic settings like Kenya may be at increased risk of death from other pathogens such as malaria and invasive salmonellosis, poor diagnostic facilities and the high childhood mortality rates call this assertion into question. Well-planned longitudinal cohort studies to define the etiologic agents that predominate in SCD morbidity and mortality in this region are urgently needed.

Deficiencies in Micronutrients

Zinc is known to be important for immune function, so low levels in SCD have been suggested as a contributory factor in susceptibility to infection. Zinc deficiency is associated with lymphopenia (abnormally low levels of immune building white blood cells). Zinc deficiency may affect 60–70% of SCD patients. High protein turnover increases requirements, while hemolysis releases zinc, which is lost via the kidneys as renal tubular damage impairs reabsorption. At the same time poor diet and inadequate intestinal absorption could reduce intake. A study in 21 zinc deficient children suggested that giving supplements reduced the incidence of bacterial infections and cut hospital admissions.

Genetic Factors

Despite sharing the same underlying genetic mutation, the range of severity in SCD patients is striking, with some patients disabled by frequent crises and long-term complications while others live virtually normal lives. Individuals are also differently predisposed to particular pathological manifestations of the disease. This suggests that the SCD phenotype is multi-genic: since many unlinked genes are involved in the underlying extreme processes in SCD (such as destruction of sickled cells or endothelial adhesion), variation in genes at multiple locus points may modify outcome. Complexities in a number of genes involved in the immune response have been suggested as contributing to increased susceptibility to infection in SCD.

Mechanical Factors

The pathological effects of SCD can themselves create an environment supporting infection. Children with SCD are predisposed to osteomyelitis (inflammation of bone/bone marrow). The bone marrow space is expanded to accommodate the increased hematopoiesis (formation of blood/blood cells) needed to compensate for chronic hemolysis (red blood cell destruction), and oxygen demand is high. At the same time circulation is sluggish. Together these factors render bone vulnerable to vaso-occlusive (obstruction of blood vessel) episodes and infarction (tissue death). Areas of necrotic (dead) bone act as focus for infection, which becomes established via hematogenous (bloodstream) spread.

Edwardsiella tarda is another enterobacterium that has been reported with increased incidence in SCD. Increased gut permeability and biliary sludging in SCD is likely to be responsible for this association. It may be that patchy ischemia and infarction of bowel secondary to micro vascular occlusion permits gut bacteria to invade the intestinal wall and enter the bloodstream.

Another consequence of micro vascular disease is its association with acute chest syndrome. SCD carries an increased risk of prolonged and severe respiratory infections due to Mycoplasma, Chlamydia and other pathogens, particularly in children prone to pain or micro vascular sequestration, such as those with SCD.

Finally, SCD patients may be predisposed to certain iatrogenic (illness caused by medical examination or treatment) infections as a result of therapeutic interventions. Blood transfusion is commonly used to treat complications, particularly aplastic crisis or splenic sequestration (when Hb falls acutely) and acute chest syndrome, priapism, or strokes (when exchange transfusion is used to reduce the proportion of HbS). In general such programs are potentially associated with increased risk of blood-borne infections, particularly hepatitis B and C and HIV. Although all blood products in developed countries are screened for these viruses, standards in other countries may not be so exacting, so early hepatitis B immunization is recommended as a preventive measure. 

Now it is clear as day that my parents weren't crazy in being vigilant. As a sickle cell warrior speaking from experience, it is better to prevent than to treat. Sickle Cell is an expensive disease, however, it is way cheaper and less stressful to manage than to treat and bring the body back to balance when in crisis.

Next week we look at the effects of the infection on Sickle Cell Warriors and how we can prevent them. Until next time.

Love Life!

Lea

YOU NEED TO LEARN ABOUT SICKLE CELL TRAIT

On January 18th this year, Shanice Clark 21 a college basketball star of California University of Pennsylvania was found unresponsive in her dorm room. She was rushed to Monongahela Valley Hospital but she could not be revived and was pronounced dead. California borough police said that a preliminary report from medical personnel indicated the death appeared to be accidental and there were suggestions she had choked on gum while sleeping.

On Monday this week a Washington coroner Tim Warco’s report blamed the death of the college star on sickle cell trait.

Sickle cell trait means having one gene for a condition called sickle cell disease (SCD). This in itself does not normally cause problems and sickle cell trait is not considered as a disease. It is extremely rare for it to cause problems or complications, which mainly occur under conditions of severe physical stress.

There has been a long term discussion on whether sickle cell trait can cause pain and other complications or not except under extreme conditions. Their debate has existed for more than 50 years and some professors who have managed sickle cell cases for long time have refused to accept that sickle cell trait can cause complications despite the fact that they have come across many cases of trait carriers who get complications like haematuria.

I remember a review written by a professor in sickle cell about a research that had been done and published in Journal of American Forensics by Charis Kepron M.D, Gino R. Somers M.B.B.S, Ph.D and Michael S. Pollanen, Ph.D titled Sickle Cell Trait Mimicking Multiple Inflicted Injuries in a 5-Year-Old Boy (September 2009), in his review he argued that a person with the trait cannot get complications. In their research they had described a case of sudden unexpected death in a 5-year-old child with undiagnosed Sickle Cell Trait due to the Acute Chest Syndrome.

The boy’s story according to the paper was “5-year-old boy of Ghanaian origin was reportedly well except for a dry cough that was initially noted on the morning of the day he died. He had been given a single dose of an over-the-counter cough medication in the early evening, and on his way to bed began to vomit. His parents described copious vomiting from the nose and mouth, and EMS was called. Paramedics arrived to find the child with no vital signs and it appeared to them at the time of initial assessment that he had aspirated. Intubation attempts in the field were unsuccessful; therefore, the boy was bag-ventilated until his arrival at the nearest Emergency Department (ED) 30 min after the onset of vomiting. He was successfully incubated in the ED, and during the resuscitation efforts it was noted that his abdomen appeared distended, a sign that appeared to worsen over the course of treatment. The anaesthetist involved reported thick secretions in the airway and high airway resistance. The resuscitation attempt was unsuccessful and the boy was declared dead 30 min after arriving in the ED. There were no signs of injury, and the child appeared well cared for.”

The issue of sickle cell trait complications has remained controversial as the complications experienced themselves. No body seems to explain why the complications exist.

In both cases of Shanice and the 5 years old boy the preliminary investigations always focus on the soft points.

With the rampant increase in the number of people with the trait in the world there is a need to educate everybody concerned.

There is a need to have comprehensive education and awareness programs for everyone with a major emphasis on coaches, healthcare professionals, parents, and student-athletes on sickle cell trait and the prevention of sudden death. Sickle cell trait should not prevent anyone from participating in athletic activity; however, recent deaths from exertional sickling events in the athlete setting have demonstrated the need for more education. Education and prevention programs are the key to preventing an exertional sickling event.

Sickle cell trait is a generally benign condition in red blood cells sometimes causing them to carry oxygen differently. Athletes with sickle cell trait run the risk of experiencing exertional sickling events that may have injurious outcomes. Complications from sickle cell trait while exercising are mostly preventable.

There is also a need to have population screening for the sickle cell trait. A population unaware of the sickle cell trait (SCT) has resulted in a large population of individuals entering childbearing age with no knowledge of their risk.

Love life!

Lea.

 

WHAT IS SICKLE CELL DISEASE II?

Last week we started our discussions on Sickle Cell Disease. I gave you and introduction on the basics of Sickle Cell Disease. If you missed it, click HERE to read. It is a series of information that will be building up from where we left off last, hence it’s important to start from the beginning.

As many of you know, Sickle Cell Disease is a foreign term in Kenya. Not because we don’t have cases in Kenya but because there is not much awareness of the disease within our country. Awareness plays an importance of ending ignorance on a certain issue. And in this case creating awareness of Sickle Cell Disease ends the ignorance brought about by sheer oblivion of information on this social issue.

What I’m’ trying to say in very many words is this; we will not be able to drive change without identifying the need of that required change. Why do we need change?! And we will not identify the need without creating awareness of the many lives lost to Sickle Cell Disease and not to forget the ones who continue suffering due to lack of information and support systems/policies.

Sickle Cell awareness creation seeks to end the viscous cycle of misinformation and death of a community. This is by the simple fact of providing knowledge to a community to enable you to make informed decisions about yourself, your family and your community.

Last week I mentioned that few people in Kenya know about Sickle Cell and even fewer know about their Sickle Cell status. It is important to know your status as it helps you know whether you carry the Sickle Cell gene.  This will help you be aware of the risk of having children with Sickle Cell Disease.

It is most important so as to be screened to help in diagnosis and confirmation and also to monitor any treatment administered by doctors.

I need to know if I carry the gene. How can I be tested?

A simple blood test called the hemoglobin electrophoresis can be done by your doctor or hospital. This test will tell if you are a carrier of the sickle cell trait or if you have the disease. We certainly don’t like giving you half bake information that may be inaccurate; please exercise patience with us as we conduct our research. Stay tuned for a deeper discussion on where you and your family can get the test done in Kenya and at how much. We are still conducting research on where we can direct people and what are the methods and cost variability between the different health center labs.   We will also give you an overview of methods of evaluating the type and amounts of various normal and abnormal hemoglobin types. This will be discussed in a later post on April 1^st 2015. I promise :)

What will this test likely tell me? Are there different types of sickle cell disease?

This test will let you know of which gene/genes of Sickle Cell you carry. There are three common types of sickle cell disease

·         Hemoglobin SS or sickle cell anemia

·         Hemoglobin SC disease or Sickle Cell Carrier

·         Hemoglobin sickle Beta-Thalassemia

You now know what Sickle Cell Disease. Tell me why  it is so bad; What complications are associated with Sickle Cell Disease

Complications from the Sickle Cells blocking blood flow and early breaking apart may include but not limited to:

·         pain episodes

·         strokes

·         increased infections

·         leg ulcers

·         bone damage

·         yellow eyes or jaundice

·         early gallstones

·         lung blockage

·         kidney damage and loss of body water in urine

·         painful erections in men (priapism)

·         blood blockage in the spleen or liver (sequestration)

·         eye damage

·         low red blood cell counts (anemia)

·         delayed growth

Symptomatic Expressions of Sickle Cell Anaemia

What can be done to help prevent these complications?

Sickle cell patients should be under the care of a medical doctor that understands Sickle Cell Disease. All newborn babies detected with Sickle Cell Disease should be placed on daily penicillin to prevent serious infections. All of the childhood immunizations should be given plus the pneumococcal vaccine. Parents should know how to check for a fever because this signals the need for a quick medical check-up for serious infection. The following are general guidelines to keep the sickle cell patient healthy:

·         Taking the vitamin folic acid (folate) daily to help make new red cells

·         Daily penicillin until age six to prevent serious infection

·         Drinking plenty of water daily (8-10 glasses for adults)

·         Avoiding too hot or too cold temperatures

·         Avoiding over exertion and stress

·         Getting plenty of rest

·         Getting regular check-ups from knowledgeable health care providers

Patients and families should watch for the following conditions that need an urgent medical evaluation:

·         Fever

·         Chest pain

·         Shortness of Breath

·         Increasing tiredness

·         Abdominal swelling

·         Unusual headache

·         Any sudden weakness or loss of feeling

·         Pain that will not go away with home treatment

·         Priapism (painful erection that will not go down)

·         Sudden vision change

Well, there you go. I trust this explanation gives you a bit of introspect on what Sickle Cell Disease is how it manifests in the body’s of the Sickle Cell Warriors. Do you know anyone who has Sickle Cell Disease? Kindly comment below and tell us if this article has helped you to understand what they go through.

Are you a sickle cell warrior? Let us know what new thing you've learnt today about Sickle Cell.  Leave us a comment or a question that you may want us to cover on this series.

Stay tuned for the next exiting posts that will look into the origins of Sickle Cell. Find out the oldest record of Sickle Cell known to man. Until then  

Love Life!

Lea

WHAT IS SICKLE CELL DISEASE ?!

Most of us cannot remember the 2 paragraphs covering Sickle Cell Disease in high school biology, let alone half of the content that was skimmed through.

Well I remember that class. They spoke about something I was personally experiencing everyday of my life. I was afraid that i would be found out. My deep dark secret that wasn't so secret would be found out. Well, that was back then.

For those who still remain bamboozled about this disease Lea keeps speaking of, this is for you.

Imagine living with the barely half the amount of blood(HB) meant for a normal person. Imagine having frequent pain attacks in different areas of your body that can only be remedied by expensive opiate based painkillers. Imagine being pronounced dead before death even knocks by your door. And to add insult to injury, there are no adequate facilities and support structures for people living with Sickle Cell. Moreover, it's inconclusive as to how many people actually carry the Sickle Cell gene and the disease in Kenya.

Sickle Cell Disease has been labeled so many things, I fail to keep track. Some think it’s a form of yellow fever, Leukemia, Lupus, Hemophilia, Malaria, Witch craft, HIV, Epilepsy etc.  Well its certainly not that. Its funny how people tend to judge and label that which they don’t understand so as to provide some sort of meaning to it. However in most cases, that which is not properly defined will continue to carry a misconstrued interpretation until such a time when knowledge is made available. This is that time people!

So..

Sickle Cell Disease is therefore a group of genetic/inherited red blood cell disorders. Normal red blood cells are round like doughnuts, and they move through small blood vessels in the body to deliver oxygen and nutrients. Sickled red blood cells become hard, sticky and shaped like sickles used to harvest rice. When these hard and pointed red cells go through the small blood vessels, they clog the flow and break apart. This can cause pain, organ damage and a low blood count, or anemia. If you didn't know this already, let me be the first to tell you. I have Sickle Cell Disease and truthfully, its not as bad as it looks or sounds. 

Sickled Red Blood Cells

Okay. So what then makes the red blood cells sickle?

Simple, DNA. Before I take you back to school, lets clarify on some basics. 

There is a substance in the red blood cell called hemoglobin that carries oxygen inside the cell. One little change in this substance hemoglobin causes the hemoglobin to form long rods in the red cell when it gives away oxygen. These rigid rods change the red cell into a sickle shape instead of the round shape. 

That change that causes the Sickle Cell deformation is caused by a single change of the amino acid building blocks of the oxygen-transport protein, hemoglobin. We all (well some of us) know that the molecule, DNA, is the fundamental genetic material that determines the arrangement of amino acid building blocks in all proteins including hemoglobin. If this is the case then, the glitch comes in when the arrangement of the amino acids is screwed up. In this particular case of Sickle Cell, one of the amino acids in the protein hemoglobin is miss-arranged (screwed up). Valine is at a position meant for Glutamic acid. Well this tiny and seemingly insignificant change causes a big difference in the morphology of hemoglobin to cause the appearance Sickle hemoglobin in the red cells. Sickle hemoglobin exist as isolated units in red blood cells when they have oxygen. When this Sickle hemoglobin releases oxygen, however, the molecules tend to stick together and form long chains or polymers. These rigid polymers distort the red cell and cause it to bend out of shape to a crescent-like shape.   This is what causes the sickling. 

Do I have Sickle Cell Disease? How did you get Sickle Cell Disease or trait?

I inherited the abnormal hemoglobin from my parents, who are carriers of the Sickle Cell trait. One can also get it if their parents have Sickle Cell Disease. The chances vary, however it totally depends on how genetics work out. Like I know that I may give birth to normal kids, Sickle Cell carriers or children with Sickle Cell Disease. It’s all uncertain. Please note, you cannot catch/contract it. You are born with the Sickle Cell hemoglobin and it is present for life. If you inherit only one Sickle gene, you have Sickle Cell trait. If you inherit two sickle cell genes you have Sickle Cell Disease, like me. 

Sickle Cell Gene Diagram

I am lost now. I don’t understand this Sickle Cell Trait term?

Sickle cell trait is a person who carries one sickle hemoglobin producing gene inherited from their parents and one normal hemoglobin gene. Normal hemoglobin is called type A. Sickle cell hemoglobin called S. Sickle Cell trait is the presence of hemoglobin AS. People who have Sickle Cell trait are known as Sickle Cell Carriers. They carry the one Sickle hemoglobin producing gene and in many cases don’t experience the symptoms of a person with Sickle Cell Disease. This however is dependent on certain physiological factors that when adverse, may trigger these symptoms.

In Kenya, very few people know about Sickle Cell Disease and even fewer know there Sickle Cell status. Most people are shocked into knowledge when they give birth to children with Sickle Cell Disease and are rendered helpless and misinformed on how to move forward.

This is the first step towards empowerment. Let me know if you have Sickle Cell Disease or if you know anyone with Sickle Cell Disease? Tell us how you came to learn about the disease.

Lets chat in the comment section below as we wait for the next series that will inform you how to know your SCD status and so much more.

Until then,

Love Life!

Lea