Sickle Cell Disease (SCD)


Sickle cell disease (SCD) is an inherited blood disorder in which oxygen transport by the red blood cells (RBCs) is compromised. SCD is characterized by the presence of abnormal, sickle-shaped RBCs.These can interact with and adhere to other cells, forming clots that block normal blood flow within blood vessels.1 Obstruction by the sickle-shaped RBCs increases the risk for infection and stroke; it also causes painful crises that can last for days or weeks, or long term.1,2 The lifespan of sickled RBCs is shorter than that of normal RBCs, so that anemia commonly develops in patients with SCD.2

Symptoms of SCD can begin in children as young as 4 months of age; therefore, newborn screening is important for an early diagnosis.3,4 The disease requires lifelong treatment, and patients benefit from the care of a multidisciplinary team of healthcare professionals.

Specialists Involved in the Management of Sickle Cell Disease

Regular medical check-ups are important to prevent serious complications of SCD. Babies with SCD should have follow-up visits every 2 to 3 months until they reach 1 year of age. Children between 1 and 2 years old should have medical appointments at least every 3 months. Children older than 2 years and adults should have annual appointments.5

The medical team following a patient with SCD typically includes a diverse group of specialists, including a primary care physician, hematologist, pulmonologist, cardiologist, nephrologist, ophthalmologist, psychologist, and social worker.

Hematologist

SCD is a complex disease, and a hematologist (a specialist in blood diseases) is often the best choice for primary medical care.6 Blood tests, including a reticulocyte count, will be repeated at each visit.7

Pulmonologist

Acute and chronic complications of SCD generally affect the lungs, and acute chest syndrome (ACS) is a common cause of death in adults and children younger than 3 years old. Other pulmonary problems, such as asthma, may exacerbate SCD because the hypoxia associated with these conditions promotes hemoglobin S (HbS) polymerization. Patients with SCD should therefore be followed by a pulmonologist, who can assess their pulmonary function and monitor for pulmonary hypertension.7

Cardiologist

Patients with SCD usually will need to consult a cardiologist because examinations typically reveal alterations in cardiac function. An enlarged heart with a systolic murmur is often detected, as well as an increase in the resting cardiac output. Chest pain is a common symptom of SCD.7

Nephrologist

A nephrologist may contribute actively to the medical care of a patient with SCD. Renal malfunction can be expected in SCD, which is associated with abnormal renal structure and function.7

Ophthalmologist

Vaso-occlusive events can compromise the blood vessels of the eye. Visual symptoms may not manifest in the early stages of the disease; therefore, patients should undergo an annual examination by an ophthalmologist to diagnose retinopathy and other eye complications, including increased ocular pressure.7

Psychologist and Social Worker

SCD affects not only patients but also their families and their relationship with the community. A psychologists can help a patient with SCD to cope with the stress of living with a chronic disease, and a social worker can assist with applying for welfare, social security, and disability benefits as needed.7

Preparing for a Specialist Appointment

Patients with SCD may take several steps in preparation for a specialist visit that will facilitate an effective appointment. Tips to optimize the visit include writing down questions or concerns to share with the specialist, and organizing the questions from most important to least important.6 It can be also helpful to prepare a list of the symptoms already experienced. Bringing a family member or friend to the visit may make it easier for the patient to remember any information the specialist provides during the appointment.8

When to Seek Medical Advice

Patients with SCD should consult a physician if they experience pain that is not relieved by treatment at home or if an issue with vision arises suddenly. However, they should go to a medical care facility right away if any of the following problems develop: difficulty breathing, chest pain, abdominal swelling, weakness of one or both sides of the body, confusion, and high fever.6,9

References

1. Sickle cell disease. National Organization for Rare Disorders (NORD). Accessed November 19, 2021.

2. What is sickle cell disease? Centers for Disease Control and Prevention. Last reviewed December 14, 2020. Accessed November 19, 2021.

3. Sickle cell disease. American Society of Hematology. Accessed November 19, 2021.

4. Braunstein EM. Sickle cell disease. MSD Manual Professional Version. Reviewed/revised September 2020. Accessed November 19, 2021.

5. Living well with sickle cell disease. Centers for Disease Control and Prevention. Last reviewed December 16, 2020. Accessed November 19, 2021.

6. Living well with sickle cell disease. Self-care toolkit. Centers for Disease Control and Prevention. Accessed November 19, 2021.

7. The management of sickle cell disease. National Heart, Lung, and Blood Institute. Accessed November 19, 2021.

8. Sickle cell anemia. Mayo Clinic. Accessed November 18, 2021.

9. Living with sickle cell disease. National Health Service (NHS). Reviewed April 16, 2019. Accessed November 19, 2021.

Reviewed by Harshi Dhingra, MD, on 11/22/2021.

READ MORE ON SCD