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Every child born in New England is screened for sickle cell disease and other serious disorders through the New England Newborn Screening Program. If a child in your care has a positive screening for sickle cell disease or other disorder, you'll receive a letter with details of the diagnosis and instructions for referral to a hematologist as needed.
However, New England also has many new immigrant families whose children may not have been diagnosed by this type of screening. Children of African, Arabian, Caribbean and Mediterranean descent are at a higher risk of inheriting the disease. You should ask new immigrant parents about family history of the disease and, when indicated, order a hemoglobin electrophoresis to check for sickle cell disease and other hemoglobinopathies.
Sickle cell disease can cause a number of serious complications, including severe bacterial infection, pain crises, stroke, acute chest syndrome and other organ damage. As a result, children with the disease require referral to a pediatric hematologist and regular screening to monitor their condition, including tests to evaluate stroke risk, renal function and lung function.
Pain crises, resulting from sickled cells blocking blood flow to part of the body, are the most common cause of sickle-related hospital admission and often necessitate the use of analgesics, including narcotics. In our program, each child has an individualized pain plan designed to manage symptoms effectively at home, prevent complications and reduce hospitalizations.
Stroke is another especially frightening complication of the disease and, unfortunately, up to 10 percent of patients may develop a stroke by age 20. To identify these high-risk patients, Children's offers screening known as transcranial Doppler ultrasound. Children at high risk for a stroke or who have had a stroke previously will receive more aggressive therapy in the form of monthly blood transfusions.
Treatment for sickle cell disease in children can be grouped into three categories: health maintenance, active treatment and curative therapy.
- Health maintenance includes the regular screenings that a child will require to monitor the course of his disease, such as frequent blood tests and other diagnostics to assess organ function. Prevention of infection and management of pain are also important components of health maintenance. Children receive standard and supplemental vaccines, penicillin prophylaxis to prevent infection and an individualized home management plan that explains what to do if potentially serious situations arise, such as breathing trouble, dehydration, severe anemia, pain or signs of infection.
- Active treatment primarily involves the use of the drug hydroxyurea, which has been shown to effectively reduce many complications of sickle cell disease and has significantly decreased the need for emergency room visits. The 2004 BABY HUG study demonstrated that hydroxyurea is safe and effective for the treatment of sickle cell disease in infants and young children. However, children need to be seen more frequently (every one to three months) for bloodwork when taking this medication. In lieu of hydroxyurea, patients with especially severe disease may instead receive monthly blood transfusions.
- Curative therapy for sickle cell disease is a stem cell transplant from an HLA-matched, disease-free sibling. All full siblings should have HLA-typing done so families can make a decision about stem cell transplant. Due to the significant risks associated with transplant, this option may not be appropriate for all patients. For more information on this therapy, families can be referred to our Stem Cell Transplant Program.
Primary care providers play an active and important role in the care of children with sickle cell disease. In addition to routine childhood care and family support, they provide important health maintenance care such as:
- extra vaccinations that are indicated in sickle cell disease, such as pneumococcal (PPV23 - Pneumovax, PCV13 – Prevnar 13 'catch-up'), meningococcal (MCV4 – Menactra) and combined flu shots
- penicillin prophylaxis to prevent infection from birth to age 5
- careful monitoring for signs of respiratory symptoms, fever (over 101.5 F) or infection, which require immediate evaluation in the emergency room or urgent care setting
However, it is also critical that children with sickle cell disease be seen regularly by a pediatric hematologist. We recommend visits once every three months during their first year of life and every six months thereafter with a lab screening at each visit.
Our goal is to provide comprehensive care and disease counseling for our pediatric patients in partnership with each child's primary care provider. Our team at the Children's Sickle Cell Program is available to answer any questions you may have about newborn screening, patient care plans and treatment options for sickle cell disease.
We hope that you'll use our team as a resource if you need assistance interpreting screening results or determining whether a child should be referred. A guide for interpreting newborn screening results is also available from the New England Pediatric Sickle Cell Consortium.
More information: childrenshospital.org/sicklecell
Make a referral: 617-355-8246 x2
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