Medical Problems

Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice and the formation of gallstones.

The sickle cells also block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (commonly in the arms, legs, chest and abdomen), stroke and priapism (painful prolonged and unwanted erection). It also causes damage to most organs including the spleen, kidneys, eyes and liver. Damage to the spleen makes sickle cell disease patients, especially young children, easily infected by certain bacterial. Therefore, any fever in someone with sickle cell disease must be taken very seriously.

Treatment

Health maintenance for patients with sickle cell disease starts with early diagnosis, preferably in the newborn period and includes penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation.

Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery all backed by psychosocial support. Like all patients with chronic disease patients are best managed in a comprehensive multi-disciplinary program of care.

Hydroxyurea for Treating Sickle Cell Disease

First approved by the FDA for SCD in 1998, hydroyurea is considered to be standard of care for treatment. There is abundant evidence of its benefit, and it has been used safely across all continents where there are people with sickle cell disease. A single randomized clinical trial of 299 patients with SCD demonstrated that compared to placebo, hydroxyurea was associated with lower annual rates of pain crises, pain episodes of acute chest syndrome and need for transfusions. The National Heart, Lung and Blood Institute recommends starting hydroxyurea in patients as young as nine months old, and it is FDA approved for pediatric patients who are two years or older. It is strongly recommended to treat sickle cell disease. Learn more. 

Glutamine (Brand name: Endari)

L-glutamine, an antioxidant used in glutathione production, was approved for patients five years old and above by the FDA in 2017. It comes in the form of a powder which can be mixed with water or food. Learn more. 

Crizanlizumab (Brand name: Adakveo)

An infusional medication approved for patients 16 and above in 2019. The infusion takes 30 minutes and is administered once a month after your second dose. Learn more.

Stem Cell (Bone Marrow) Transplant

A bone marrow transplant is one of the few methods that can cure sickle cell disease; however, for most members of the SCD community, it is not a viable option. The procedure can be risky, and a well-matched bone marrow donor can be difficult to identify. The decision to move forward with a bone marrow transplant depends on many factors, including your age and the severity of your symptoms. A bone marrow transplant works by replacing the stem cells of the sickle cell patient with the stem cells of a healthy donor. The new stem cells produce red blood cells with healthy hemoglobin instead of sickle hemoglobin. Learn more.

Gene Therapy

Two gene therapies were approved in Dec. 2023 by the Food and Drug Administration (FDA) to treat sickle cell disease: exagamglogene autotemcel and lovotibeglogene autotemcel. These treatments are considered potentially curative. This means that it could act as a cure, but it is too new to say for sure. It has been shown to result in a significant decline in pain episodes, but we need to learn more about long-term impacts and side effects. It is also not clear whether this is a “one-and-done” treatment. The FDA currently recommends 15 years of patient follow up after treatment. During the gene therapy process, doctors collect stem cells from the body and edit or add to them so they will make red blood cells that don’t sickle in the body. During this time, the person undergoing gene therapy will receive chemotherapy to remove the original cells from their bone marrow. Once that is complete, the cells that had gene therapy are injected back into the body. The process can take a year. Learn more.</p.

Blood Transfusions

Blood transfusions help benefit sickle cell disease patients by reducing recurrent pain crises, risk of stroke and other complications. Because red blood cells contain iron, and there is no natural way for the body to eliminate it, patients who receive repeated blood transfusions can accumulate iron in the body until it reaches toxic levels. It is important to remove excess iron from the body, because it can gather in the heart, liver, and other organs and may lead to serious organ damage and even death. Treatments are available to eliminate iron overload (see below).

Transfusional Iron Overload

Patients with sickle-cell disease (SCD) receiving chronic transfusions of red blood cells are at risk of developing transfusional iron overload over time. Transfusional iron overload is characterized by an increase of labile plasma iron (i.e., non-transferrin bound iron) in the body, which can lead to functional impairment in vital organs. The organs that are at risk of damage due to iron overload include the liver, heart, pancreas, thyroid, pituitary gland, and other endocrine organs. Buildup of labile plasma iron in these organs can lead to hepatic cirrhosis, cardiomyopathy, diabetes mellitus, hypoparathyroidism, impaired growth, infertility, hypogonadism and even death. The body does not have a way to get rid of iron received from blood transfusions. An agent that chelates iron is therefore needed to get rid of excess iron in the body. There are two agents. One agent is given intravenously and the other is by mouth.

Preventative Care and Screening

Preventative care and screening can help you stay healthy and keep you out of the hospital. Examples include sticking to an appointment schedule with all your providers – hematologist, primary care provider, optometrist, etc; staying up to date on vaccines and making it a priority to get your flu shot and COVID-19 booster every year; completing routine tests and screenings as recommended by your provider; and following treatment instructions carefully and asking questions if they come up.

Reproductive Care and Genetic Counseling

Individuals with SCD who wish to have children may need extra support as they consider starting a family and/or navigate a pregnancy. Starting discussions with your provider early can help you make informed choices about family planning. Genetic counseling can help you and your partner understand your unique situation and how it may impact your future children. Those who are already pregnant may wish to pursue advanced genetic tests that can tell you whether your baby has sickle cell prior to their birth. Learn more. 

Mental Health and Wellness

Living with a chronic disease can be stressful. There is no shame in needing support as you navigate treatments, complications and more. If possible, connecting with a compassionate and knowledgeable therapist can make a world of difference. You can also talk about your feelings with your trusted friends and family and take extra precautions to reduce stress in your day-to-day life by eating healthy, getting plenty of light exercise and prioritizing sleep. Learn more.