Sickle Cell Disease

Sickle cell disease is a group of blood disorders that affect hemoglobin – a protein in red blood cells that carries oxygen. Sickle cell disease is unpredictable and chronic, requiring complex management by specialized health care professionals. At the Pediatric Comprehensive Sickle Cell Program, part of University of Michigan Health C.S. Mott Children's Hospital, we provide coordinated, comprehensive health care and resources to children and families affected by sickle cell disease.

Approximately 1 in 375 African Americans is born with sickle cell disease – one of the most common inherited diseases worldwide. Newborn screening for the sickle cell gene is performed on all infants born in the U.S. The results are given to you and your primary care physician usually by the time your baby is 2 weeks old. If both parents carry the sickle cell trait, there is a 1 in 4 chance of having a child with sickle cell disease.

We carefully review with you and your family the meaning of a positive newborn sickle cell screen. We provide in-depth education, and also provide genetic counseling, which includes a discussion of implications of future pregnancies.

Some of the complications and effects of this disease include:

• Episodic pain crises and chronic pain
• Frequent hospitalizations, emergency room and clinic visits
• Increased susceptibility to certain bacterial infections
• Slowed growth
• Impaired fertility
• Strokes
• Restriction in blood supply, with potential tissue damage to heart, lungs, bone marrow, brain, kidneys and/or spleen
• Psychological stress due to the unpredictable nature of the illness, and the potential for suboptimal functioning at school amd work.
• The potential for lowered self-esteem, which can impact compliance with home management, treatment and keeping clinic appointments

What You Should Know About Managing Sickle Cell Disease

Ongoing assessment and intervention as well as active participation of the child and caregivers are essential to providing the most effective treatment available. Optimal management of sickle cell disease and its complications may result in improved outcomes for those affected.

Pain is the most important symptom of sickle cell disease. The pain is often described as deep, gnawing and throbbing. The skin may be tender, red and warm in the painful areas. Kids with sickle cell disease may experience a wide variety of pain, ranging from mild to severe, starting as early as six months of age and continuing throughout their lives. It can be difficult for children to tell you where it hurts and what it feels like.

For this reason, we are using new tools to help define pain in children. Our pain charts and scales for kids use pictures or numbers to help them describe their pain. Describing the pain can help parents, doctors and nurses understand how bad the pain is, and how to best treat it.

To optimally address this and other medical issues, a multidisciplinary team consisting of a physician (pediatric hematologist), pain specialist (anesthesiologist), registered nurse, social worker, psychologist, dietician, school liason, and clinic coordinator collaborate to spearhead each patient’s specific issues, providing expert consultations and long-term management for the most comprehensive care. A written comprehensive plan is completed with recommendations from our multidisciplinary team.

For more information about our multidisciplinary approach to caring for kids with sickle cell disease, view the video “Multidisciplinary Approaches to Caring for Sickle Cell Patients: An Interview With Dr. Sharon Singh.”

Comprehensive Treatment and Options at the University of Michigan

Each patient has a comprehensive visit at the beginning of the program and annually thereafter. This visit consists of obtaining a detailed history, a complete physical examination, laboratory data, and parameters of growth and development, as well as performing a thorough assessment by the physician, nurse practitioner, psychologist, social worker and nutritionist.

Pain can be treated with over-the-counter and prescription medications, other at-home therapies and lifestyle changes. Severe pain may require clinic or hospital care. A blood transfusion can be performed in our outpatient Infusion Center for complications not controlled by milder therapies.

We offer exchange blood transfusions through our Apheresis Center, providing children who need chronic transfusions with a treatment that either prevents or delays iron overload (blood transfusions cause a buildup of excess iron in the body). Exchange transfusions can also extend the time between treatments (every 4-5 weeks as opposed to every 3-4 weeks).

For patients with severe cases of sickle cell disease, a bone marrow transplant may be the best course of treatment. C.S. Mott Children’s Hospital is home to the largest, most experienced pediatric bone marrow transplant program in the state of Michigan, with recognized expertise in both established transplant techniques and innovative research initiatives.

In addition, we also offer a Sickle Cell Gynecologic Clinic to provide specialized gynecologic care for adolescent females who might have unique needs due to their sickle cell diagnosis

A Pediatric hematology nurse is available during the week by phone to discuss home management or minor illnesses as well as provide support or education between visits. A pediatric hematologist/oncologist is available by paging 24 hours/day 365 days/year at 734.936.6267 (ask for the pediatric hematologist/oncologist on-call).

School Support

We frequently communicate with patients’ schools (preK through college) throughout the calendar year to help educate teachers, principals and school/college counselors about sickle cell disease and its impact on school performance, absences, and ways to keep the student safe and healthy (staying warm, drinking lots of fluids, allowing rest between activities).

Research

We are leaders in research and innovative work that aims to better understand the complications of sickle cell disease and find new treatments for patients. Recent studies from the laboratories of James Douglas Engel, Ph.D., and Rami Khoriaty, M.D., have focused on identifying strategies to increase fetal hemoglobin (the type of hemoglobin that babies have, which has natural anti-sickling effects). Their studies are uncovering new important pathways for fetal hemoglobin regulation with the goal of testing new medicines to prevent sickling. 

Another major effort is led by Sarah Reeves, Ph.D., M.P.H., who is in charge of a statewide surveillance system funded by the Centers for Disease Control and Prevention (CDC). The objectives of this program are to identify and follow individuals with sickle cell disease, strengthening relationships in the sickle cell disease community across the state. 

In addition, collaborative sickle cell research is ongoing in various laboratories and clinics across our campus to study chronic pain, bone marrow transplantation, vaccine response, blood flow, use of lung ultrasound and quality improvement, among others. Patients also have access to selected clinical trials testing promising new treatments for sickle cell disease.

Make an Appointment

Schedule an appointment by calling us at 734-936-9814