Diagnosis and Follow-Up Care with Sickle Cell DIsease

Routine healthcare improves outcomes for people with sickle cell disease (SCD) by preventing complications. For children, this involves antibiotics, vaccinations, laboratory tests, and education. Universal newborn screening allows doctors and families to start this before children show symptoms.

Adults with SCD benefit from routine health exams to treat complications early. Counseling also helps to support adults in completing education, finding employment, family planning, and maintaining mental health.

How are sickle cell disease and sickle cell trait diagnosed?

Newborn screening

In the United States, all states and territories test every baby for sickle cell disease. This allows healthcare teams to start education and routine healthcare as early as possible. The test analyzes blood from a heel prick to determine what type of hemoglobin protein the baby has.1-3

Newborns who test positive for hemoglobin S (HbS) are tested again after 2 months to get a more accurate diagnosis of their specific SCD type. The family can then receive education before symptoms appear and begin penicillin and immunizations as needed.4

Sickle cell trait

Screening can also identify infants who are carriers of SCD, called sickle cell trait. This may not be immediately helpful to infants with sickle cell trait because they usually do not show symptoms. However, the infant’s parents should be offered education and testing because it could affect future reproductive decisions.2,5

Genetic counseling

Sometimes, adults discover they have sickle cell trait when they have a child with abnormal hemoglobin. Genetic counselors can provide education and support concerning the risk for having children with SCD. Information that counselors provide includes:5

  • Family planning options
  • If any restrictions need to be placed on your activities
  • The likelihood that future children have SCD
  • What factors go into the decision to have children

What does routine healthcare look like for children with sickle cell disease?

Newborns usually first visit a specialized doctor (a pediatric hematologist) when they are 2 months old. Infants may then see a doctor every 3 to 4 months. As they age, the frequency will reduce depending on their sickle cell disease type and the needs of the family. At these visits, children may get laboratory tests, immunizations, treatment, or counseling.4,5

Laboratory tests

Some common laboratory tests include:4,5

  • Complete blood count (measures the number of blood cells in your blood)
  • Body measurements, including height and weight
  • Blood pressure
  • Blood and urine tests for kidney function
  • Blood tests for liver function
  • Oxygen saturation tests for lung function
  • Imaging tests for risk of stroke

Immunizations

Children with SCD should receive all routine immunizations, including the yearly flu vaccine. They also need additional immunizations, such as the pneumococcal and meningococcal vaccines. How often they get vaccines depends on their age and sickle cell disease type.4,6

Penicillin

Preventive penicillin is the most important part of routine care for children. Children usually take penicillin twice a day from 2 months old to 5 years old to prevent bacterial infections. Parents have the option to continue after 5 years of age, but research shows there is less benefit.7-9

Counseling and education

Once a child is diagnosed, parents can learn about their role in managing their child’s specific SCD type. Parents may be taught:4,5

  • How to feel for an enlarged spleen
  • How to avoid, recognize, and treat pain crises
  • How to recognize signs of acute chest syndrome and stroke
  • What nutritional supplements to give, such as folic acid
  • What treatment options are available, such as hydroxyurea and blood transfusions
  • When to bring a child to a doctor, such as a fever or other signs of infection

Counselors can provide these educational materials to their teachers and school personnel. They can also provide guidance to older children on puberty and sexual health, independent living, recreational activities, and traveling.5,10

What does routine healthcare look like for adults with sickle cell disease?

Complications usually get worse as people age into adulthood. This includes:1

  • Pain crisis frequency
  • Vision changes
  • Kidney and lung disease
  • Chronic pain

Many adults also suffer from anxiety and depression or have difficulties with relationships and employment. Routine physical and mental healthcare can address these complications early.1

How frequently adults see a doctor varies, but is usually every 2 to 6 months. The type of tests that doctors perform depend on the specific complications. Some common routine tests include:5,11

  • Blood and urine tests for organ function
  • Evaluation for pulmonary hypertension (high blood pressure in the lung)
  • Eye exams
  • Regular vaccinations and tests for infections

At routine visits, doctors may also provide education, such as:5,11

  • How to maintain a healthy diet
  • How to minimize stress, exhaustion, and dehydration
  • How to reduce risks associated with sex, drugs, and alcohol

Regular counseling is also an important part of adult healthcare. This may include support in completing education and finding suitable employment. Social workers and mental health professionals can also help solve a range of problems and teach coping skills.5

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Written by: Matthew Zajac | Last reviewed: January 2021