Sickle Cell Anemia-Causes and Treatments of Sickle Cell Disease
It has been several decades since ‘sickled’ blood cells were discovered under a microscope, and the cause for these strangely shaped sickle cells discovered by Dr. Linus Pauling.
What we know today as sickle cell disease and sickle cell anemia is the result of abnormal hemoglobin (blood protein) which causes the cells to take on a sickle, or crescent moon shape. These cells then become stuck in small blood vessels, preventing blood flow and oxygen transport. This causes pain, but also results in a wide range of mild to acute, and sometimes life-threatening health problems.
Sickle cell disease is inherited when two parents contribute a gene for sickle hemoglobin. If only one parent contributes the gene, this is called sickle cell trait, which rarely results in typical SCD complications.
This chart from the National Heart and Lung Blood Institute shows the gene inheritance pattern:
A disease which used to take people in their teens, it is manageable today in part due to the 1983 PROP study. PROPS stands or Prophylactic Penicillin Study. PROPS treated healthy sickle cell patients with penicillin and found that it prevented life-threatening infections.
SCA life expectancy is longer today than ever before. With proper management and healthcare, the average patient now lives into their 40’s and 50’s.
Besides blood transfusions, scientific studies contributed the drug hydroxyurea in 1995. This drug helps prevent sickling and manage SCA complications. A year later, bone marrow transplants from matching donors were able to cure patients of the disease.
Although bone marrow transplants are a promising option, they are dangerous to the patient. Until recently, SCA transplant patients faced a 20 percent mortality rate following the operation, and only 1 in 5 patients are able to find a donor.
There is good news, though. Recent research at the University of Louisville in Kentucky has reduced transplant mortality risk to less than .5% using “facilitating cells.”
These are bioengineered donor stem cells which make it easier for the transplant to be accepted. This means fewer immunosupressive drugs for the patient, and a greater chance of survival.
Role of Blood Transfusions
Blood transfusions were one of the first treatments for sickle cell anemia. The process alleviated symptoms and improved patient quality of life.
Why blood transfusions? When red blood cells become ‘sickled’ the body attacks them. It then rushes to make more, putting excessive stress on the kidneys and causing low bone mineral density over time. A blood transfusion gives the recipient healthy red blood cells without damaging the body.
In the early days, doctors had no way to remove the excess iron accumulated from regular transfusions, and patients would eventually die as a result of iron overload.
Today, doctors manage this problem with the iron chelation process and the drug deferoxamine. Iron chelating prevents toxic buildup of iron in the body, but does not remove it entirely from major organs.
SCD patients who live into their 40’s and 50‘s is a relatively new phenomenon. Pediatric specialists in SCD and thalassemia are abundant, but the medical community is just learning how to deal with an aging population of sickle cell patients.
There are other obstacles to treatment for adults as well. As an article in the journal “Living Science” pointed out, A sickle cell disease patient who had access to insurance as a child may lose that coverage when they turn 18.
The individual is also transitioning away from their pediatric specialist, who coordinated their efforts with other health care professionals to provide the patient the best care. An adult patient will have to rebuild their chain of care.
In general, the health care system is not accustomed to adults presenting SCD symptoms, which can be another obstacle. By the time they are adults, SCD patients have dealt with ‘the suffering disease’ for years, and are acutely aware of how much and which medications they need to alleviate a pain crisis.
When this adult walks into an emergency room in the middle of a severe pain bout, demanding exact doses of specific narcotics, it sends up a red flag. Providers have been conditioned to see such a person as a ‘drug seeker,’ or drug addict.
On an anonymous discussion board, one 32 year old ‘sickler’ describes just such an incident. She was admitted to the hospital and given two rounds of pain medications which didn’t alleviate her symptoms. Not understanding how anyone could still feel pain, she was labelled as a ‘seeker’ and discharged from the hospital.
To be fair, drug seeking is not uncommon and hospital and clinical staff are trained to recognize the signs of a person feigning pain or illness to feed their addiction. As with any medical problem, and addiction is certainly one of them, education is the key. Until recently, treating adult sickle cell patients for pain crises on a regular basis was a rare incident.
Managing Sickle Pain
Sickle pain is often so severe that even prescription medications have no effect. In a video from Boston Children's Hospital, a sickle cell patient named Cavanay talks candidly about her sickle cell disease. Although she insists she lives life like a normal 18 year old, her video makes it clear that sickle pain is not something to take lightly.
Cavanay did have some suggestions for handling typical bouts of ‘sickle pain’ that worked for her:
-Lay on your back and start deep breathing.
-Distract your mind from the pain with tv, media, a book, etc.
-Take a hot bath or epsom salt tub soak.
-Eat so you can take pain medication.
Cavanay is a petite, cheerful 18 year old who speaks openly about her life, her goals and how SCA has affected her. If it weren’t for the IV she is attached to and the fact that she is laying in a hospital bed, you wouldn’t think she was sick at all.
Although she talks about her strategies for dealing with the chronic pain, she admits that “...sometimes there is just nothing you can do...no pain medication works, nothing...”
Another young patient describes her sickle pain as “someone stabbing me in my thighs, my ankles, slicing me...I couldn’t walk...”
Cavanay’s recommendations coincide with precautions made by the University of Maryland Medical Center. In order to reduce the incidence and severity of pain crises:
-Get plenty of rest. Stay warm and drink plenty of water (avoid getting dehydrated.)
-Lower infection risk by avoiding crowds.
-Do not overexert yourself, as this leads to increased oxygen demands. (Low intensity exercise is ok.)
-Avoid high altitudes.
-Do not smoke or be around second-hand smoke.
In general, following a healthy diet, getting enough sleep and avoiding illness are important considerations for someone with sickle cell disease.
More than Pain
The pain caused by sickle cell is the result of vascular obstruction and ischemia (reduced blood flow.)
The problem with even mild SCD is the damage done to major organs by deoxygenated sickle cells clogging the lines, so to speak.
This makes it difficult for tissue and organs to receive oxygen and blood. One of the first clinical abnormalities from this condition is functional asplenia.
Asplenia cripples the spleen’s ability to protect the body from infection in general, and bacterial and pneumococcal infections in particular.
Due to the lowered bone mineral density, SCA-related bone problems are another common complaint. In extreme cases, patients can experience dental issues, orbital bone infarction (restriction of blood flow to the bone cavity surrounding the eye,) and even bone marrow necrosis (literally ‘death’ of bone marrow.)
Because sickle cell screening is usually done at birth, parents know they need to keep a close eye on their infants. Young children with SCA face a possible emergency every time they are sick. These are some danger signs to watch for:
-Enlarged abdomen or spleen, pain in abdomen
-Chest pain, coughing
-Lethargy, pale skin
-Swollen hands and/or feet
and number one:
-A fever of 101 or greater, which could indicate an infection.
Much progress has been made since 1973 to improve the lifespan and life quality of sickle disease patients. Blood transfusions and bone marrow transplant processes are still being improved, and so are the drugs helping to reduce SCD complications.
While hydroxyurea is currently the choice used to produce fetal hemoglobin and reduce the severity of the disease, it has serious side effects. Safer future possibilities include butyrate and clotrimazole. The first is a food additive which may help stimulate fetal hemoglobin. The second would prevent blood cells from dehydrating and ‘sickling.‘
Gene therapy would cure patients of the disease, but is still being developed. In the future, scientists hope to use gene therapy to replace the defective genes that cause sickling.
For now, hopeful parents can be screened for the sickle cell gene before they have a baby, and discuss the results with a genetic counselor. If the disease does present in an infant, additional testing of both parents and any siblings will be necessary to confirm the result.
Education and preparation is vital to managing the disease. Anyone wishing to learn more about sickle cell disease, care and treatments can contact:
The Sickle Cell Disease Program Division of Blood Diseases and
National Heart, Lung, and Blood Institute
II Rockledge Centre
6701 Rockledge Drive MSC 7950
Bethesda, MD 20892-7950
Sickle Cell Disease Association of America
4221 Wilshire Boulevard
Los Angeles, CA 90010
Read More about Sickle Cell Disease:
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