What is Sickle Cell Disease?
Sickle Cell Disease (SCD) is a group of inherited red blood cell disorders. When a person has SCD, there is a problem with that person’s hemoglobin. The polymerization of hemoglobin in the red blood cells (RBCs), causes RBCs to change into sickle shapes when under stress.1 However, sickled cells are dangerous because they cannot successfully transport oxygen to organs throughout the body.
Normal red blood cells can easily transport oxygen from the lungs to every vital part of the body. Sickle cells cannot do this successfully because of hemolysis and the shape of the cells. Sickled cells pile up on top of each other and explode, thus leaking bilirubin into the bloodstream, leading to sickle cell patients experiencing jaundice – the yellowing of the eyes.
Symptoms of living with Sickle Cell Disease
Living with Sickle Cell Disease can be a very challenging and daunting experience. From the outside, SCD can be perceived as a disease characterized by just pain or a vaso-occlusive crisis (VOC). However, when you dig deeper into the pathophysiology of sickle cell disease, you will understand that SCD is more than just pain.
SCD is a complex multi-organ-damaging, bone-killing illness that can cause everything from blindness to bone infarcts.2 All of these symptoms are not fun. However, I consider the vaso-occlusive crisis as the worst symptom of sickle cell disease.
A pain crisis is one of the worst kinds of pain known to humankind. I came to this conclusion when I was about 12 years old, in an ER bed. The doctor was unsure, fumbling and guessing what pain medication to give me.
After so many failed attempts to control my pain, the ER Physician admitted me. And, I thought at that moment, this pain is so mind-blowingly excruciating that the doctor cannot find a way to control it.
From a young age, I was always scrappy; ask my older male cousins. I like to believe that SCD added to my scrappiness. SCD has truly helped me form my personality. I’ve learned that you must be very calm in stressful situations and appreciate every day given.
Yet, in my tween years, I was a kid learning how to cope. My tween years would begin to teach me how to mentally conceptualize this fight, learning how to manage anger, and survive this monster known as sickle cell disease.
Unfortunately, mental health is not always a given in our American society, and it truly should be. I am a strong advocate for access to mental health care. Sickle cell disease and mental health care should go hand and hand, but sadly, it doesn’t, and that sucks. Everyone’s mental health is important, so please seek help if you need mental care.
If you’re an SCD Warrior reading this blog, do not be afraid to ask your hematologist for mental health resources because we all deserve a clear, healed, and healthy mind.
What is happening during a Sickle Cell Pain Crisis?
Imagine you are traveling on the interstate when one car ahead of you slams abruptly on the brakes. The car behind the first car immediately slams on the brakes, causing you to react suddenly too. A long chain reaction ensues, causing a traffic jam. For miles to come, every subsequent car will slow down until everyone comes to a screeching halt.
In the blood vessels of a person with sickle cell disease, this traffic jam happens every day. It is called a vaso-occlusive crisis, or Pain Crisis, for short. When the red blood cells change shape due to deoxygenation, the red blood cells become rigid, sticky, and pile-up in the bloodstream.3
As a driver or even a passenger, we can all appreciate that traffic jams are no fun! No one likes being stuck in the same spot for hours at a time when you have places to go. Seating in a traffic jam can provoke feelings of frustration, anxiety and, even anger. Traffic jams are mentally exhausting, and there is no difference for a person’s body experiencing a pain crisis.
A pain crisis can put the body into a very precarious situation. RBCs never reaching their intended destination on time and intact is a daunting task for a body producing abnormal hemoglobin. When deoxygenated red blood cells sickle, every system in the body becomes compromised. This traffic jam feels like your bones are breaking apart or being crushed. Some Warriors have even communicated that a pain crisis feels like glass shards pouring into your blood vessels. Sickle Cell pain is no joke; a pain like no other.
Where do VOCs take place in the Body?
A pain crisis can happen anywhere blood flows, meaning everywhere. Often a sickle cell pain crisis impedes flow in the capillaries. The capillaries are extremely small vessels that return blood to the heart. A fun fact about capillaries is that more than 10 billion of them exist. 4
Normal red blood cells are round donut shapes of the exact, same size. Such healthy cells are free, bouncy, and can squeeze through tiny capillaries without incident. Sickle cells cannot do this well because they are sharp, sticky, and rigid. A fatal flaw.
What is Hemoglobin?
Red Blood Cells are the body’s personal delivery service. They’re responsible for moving oxygen to its oh-so-many customers, the organs, and bone tissue. Hemoglobin plays a significant role in transporting oxygen to vital organs. Hemoglobin is the protein responsible for RBCs crimson red color. Four subunits bind to four oxygen molecules that contain an iron atom bonding to a heme group.
Normal adult hemoglobin is abbreviated as Hb or Hgb. Hb are molecules containing two alpha-globin chains and two beta-globin chains. In fetuses and babies, beta-chains are not common. Hemoglobin molecules are composed of two alpha chains and two gamma chains. As the baby grows into a toddler, the gamma chains are gradually replaced by the beta-chains to form adult hemoglobin.5
The reason, pain crises do not typically present until after six months of life is because of the protection of fetal hemoglobin. Fetal hemoglobin is a new and tiny, baby RBCs that does not sickle, offering unrivaled protection for SCD babies. In the general population, hemoglobin ranges from 13.5 to 17.5 grams per deciliter; for men, and for women, the normal range is 12.0 to 15.5 grams per deciliter. Normal RBCs survive up to 120 days, 110 days greater than a sickle cell lifespan.
For, those living with sickle cell disease, have RBCs that contain mostly hemoglobin S (sickle). The average volume of hemoglobin in a person with SCD does vary. Hemoglobin in SCD Warriors can range from 6 to 12 g/dL, with average hemoglobin levels of 8 g/dL. The average lifespan of abnormal cells ranges from 10- 30 days.6,7
How is Sickle Cell Disease diagnosed?
The Black Panther Party discovered that sickle cell was a neglected disease—forgotten because most of those affected were Black. As a result, the Panther Party started implementing rapid screening tests based on a simple finger stick. To rectify the USA government’s negligence, they set up a national screening program.
Newborn screening was first recommended in 1987 by the party.8 However, it took over 18 years for every state to mandate universal newborn screening for newborns. Before 2006, testing for hemoglobinopathies was spotty, resulting in misdiagnosis or late diagnosis in the population.
If you do not know your sickle status, there are several ways you can acquire your status. Listed below are four ways to find out your trait or disease status.
1. Ask your Primary Care Physician for a hemoglobin electrophoresis and a HPLC test.
2. Ask your OBGYN for a prenatal diagnosis, in the form of an Amniocentesis Test, normally performed between the 16 and 20 weeks of pregnancy.
3. Contact the American Red Cross.
– the American Red Cross is running a national campaign, providing free sct screenings.
4. Purchase genetic tests like 23andMe, Health, and Ancestry + Traits.
What symptoms does Sickle Cell Disease cause?
Sickle cell disease is a complex illness affecting every part of the body. No two Warriors present exactly, the same, no matter the genotype the person may have. In the future, I plan to dedicate an in-depth analysis blog post to each symptom that sickle cell disease is known to cause. But, for today’s blog, I will write a comprehensive list of the issues associated with sickle cell disease. It should also be noted that the shape of the sickle cell is the primary cause for every symptom that is listed below. If there is an asterisk * by the symptom, that means, yours truly have experienced that symptom.
Hand-foot Syndrome
Aplastic Crisis
Avascular Necrosis (AVN)*
Pain Crisis*
Chronic Pain*
Delayed Puberty or Growth
Gallstones
Blindness
Pulmonary hypertension
Priapism
Fatigue*
Acute Chest Syndrome*
Stroke
Splenic Sequestration & Complications*
Infection and Sepsis*
Organ failure
Anemia*
Jaundice
Pneumonia*
Sickle Retinopathy
Leg Ulcers
Deep Vein Thrombosis
Sickle Cell Disease & Pharmaceuticals
Sickle cell disease has been the ugly, red-headed stepchild of the pharma and medical world for far too long. We can discuss why this is later. But today, I want to briefly talk about what drugs are available for the improvement of those living with SCD. There are only four medications available to SCD patients, two of which were just released last year. For a disease first clinically discovered in 1910, it is very disheartening to know that the first 2 drugs made specifically for SCD were only released 100 years later.
Hydroxyurea (HU) was the first drug used to treat individuals with sickle cell anemia. HU is a chemo-agent discovered to improve health outcomes in SCD patients. HU was approved by the FDA in 1998 for adults, and in 2017 for pediatrics, two years old and older.9 The same year, HU was approved for peds, Endrai was introduced and approved by the FDA for adults and children five years and older. Twenty-one years after the approval of HU, the USA introduced the first two medications designed specifically for sickle cell disease, Oxbryta, and Adakveo, respectively. The United Kingdom NHS recently approved, Adakveo this month, for UK SCD patients.
Originally, HU was developed to treat certain cancers. However, in 1984 it was discovered that a cytotoxic agent found in hydroxyurea, work’s to induce the production of fetal hemoglobin (HbF), or baby red blood cells from the bone marrow. When taken consistently, HU has been proven to reduce the rates of vaso-occlusive pain crisis, acute chest syndrome (ACS), and transfusion requirement in those with HbSS or Sβ0-thalassemia.10,11
Endrai was the second drug introduced to the SCD patient’s arsenal. This drug is manufactured by the pharma company Emmaus. Endrai is a prescription-grade L-glutamine used to restore the ratio of nicotinamide adenine dinucleotide (NAD) in the red blood cells. When NAD increases, red blood cells experience less oxidative stress, resulting in fewer pain crises. A clinical study for Endrai, showed that sickle cell pain crises were lower in frequency by 25 percent.
Is there a cure for Sickle Cell Disease?
There is no universal cure for sickle cell disease. However, people have been cured of sickle cell disease with a procedure called a bone marrow transplant. St. Jude Hospital carried out the first BMT in a sickle cell anemia ss patient presenting with leukemia, in 1982-1983.12 The patient’s brother donated some of his bone marrow to cure his sister of both sickle cell and leukemia. To date, many institutions globally are using this complex and dangerous process to successfully, cure sickle cell disease. There are three primary types of stem cell donors:
- Related Match – A sibling donor, such as a brother or sister who has the same bone marrow type, as well as the same mother and father. – Siblings are matched via a special blood test called HLA typing.
- Unrelated Match – Volunteer donors are strangers who have the same bone marrow type as the patient. – Donors are matched through national organizations such as be the match.
- Haploidentical – Half-matched family members such as mom or dad act as the donor. For the recipient, haplo matches are still considered to be very experimental and are only performed as research studies.
If you are interested in what Clinical Trials are currently available, you can visit https://clinicaltrials.gov/, a registry of clinical trials from over 209 countries. Clinicialtrials.gov is run by the United States National Library of Medicine at the National Institutes of Health.
ClinicalTrials.gov is the largest clinical trials database in the world, holding registrations from over 329,000 trials internationally. CRISPR is the latest in medical advancements for the world. It is a genetic editing tool slated to cure genetic diseases like sickle cell or hemophilia, in the near future. If you want to find a clinical trial for your own illness, please visit https://clinicaltrials.gov/.13
Sickle Cell Disease Around the World
Sickle cell disease arises from a trait. SCD is the first and most common monogenic disease known to man globally.14 It is estimated that 312,000 people with sickle cell hemoglobin ss (Hb SS) are born each year throughout sub-Saharan Africa. According to the World Health Organization’s, published global prevalence map of SCD, and other data collected, roughly 20–25 million individuals are living with SCD. 15
Moreover, approximately, 12–15 million cases of SCD are found in sub-Saharan Africa; 5–10 million cases in India, and about 3 million cases are distributed throughout various parts of the world, 16 such as England, Brazil, Oman & Saudi Arabia, the Caribbean, Canada, and the United States. Due to human migration and the chattel slave trade, the distribution of the sickle cell genes into regions not endemic to malaria, resulted in the widespread spread of the disease in the Americas.
How Can I Support Someone Living with Sickle Cell Disease?
There are so many ways to support someone with Sickle Cell Disease. You can organize fundraisers to support research as sickle cell disease receives less funding compared to other illnesses in the USA. Healthy individuals can always donate blood and should donate blood. It is especially important to donate blood if you self-identify as Black or African American.
Your blood donation is critical and needed in the Black community. Did you know that Black people only make -up less than 3% of blood donors even though Blacks account for 13 percent of the US population? 17 When you donate blood, you really may make a difference in the lives of people with sickle cell disease or people fighting cancer or trying to survive an accident or traumatic injury.
Another way you can support those living with SCD is by registering with be the match. Be the Match is a global leader in bone marrow transplantation matching. They work to conduct research to improve transplant outcomes. But most importantly, Be the Match provides support and resources for patients who do not have a match. Be the Match provides patients access to more than 39 million donors around the world. 18
Additional ways to support patients like me, is to become a community advocate. Many people with SCD experience neglect and discrimination when accessing care. When someone presents to the hospital in pain and is unable to speak, it is so very helpful to have someone with you, who can speak on your behalf. The Sickle Cell Consortium offers, training, and educational workshops if you are interested in becoming an advocate for the sickle cell community.
*Please consult a healthcare provider whenever you have any medical issues, questions, or concerns. I am not liable for any outcomes you might experience. I am not a medical provider.
References
- https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
- https://www.cdc.gov/ncbddd/sicklecell/treatments.html
- https://www.sciencedirect.com/topics/nursing-and-health-professions/deoxygenation#:~:text=Upon%20deoxygenation%2C%20HbS%20polymerizes%20inside,drepanocyte)%20(Figure%2019)
- https://www.healthline.com/health/function-of-capillaries
- https://courses.lumenlearning.com/boundless-biology/chapter/transport-of-gases-in-human-bodily-fluids/
- https://emedicine.medscape.com/article/2085614-overview
- https://www.stjude.org/treatment/patient-resources/caregiver-resources/patient-family-education-sheets/hematology/blood-counts-and-sickle-cell-disease.html
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024403/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022916/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022916/
- https://www.stjude.org/content/dam/en_US/shared/www/patient-support/hematology-literature/hydroxyurea-treatment-for-sickle-cell-disease.pdf
- https://www.stjude.org/content/dam/en_US/shared/www/patient-support/hematology-literature/bone-marrow-stem-cell-transplant-for-sickle-cell-disease.pdf
- https://clinicaltrials.gov/
- https://www.pnas.org/content/105/33/11595
- https://apps.who.int/gb/archive/pdf_files/WHA59/A59_9-en.pdf
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944316/
- https://www.redcrossblood.org/donate-blood/blood-types/diversity/sicklecell.html
- https://bethematch.org/about-us
Judith z Nyirenda
Thank you for the wonderful information I’m really helped
Chronic•ly Sickle
No, thank you, you’re the reason I write. Happy Holidays.
Chronic•ly Sickle
You’re welcome