Diagnosing and treating blood disorders in children

Many pediatric blood disorders are discovered by routine testing at birth. Others blood disorders develop later in childhood, often posing challenges to the doctors trying to diagnose them.

At Advocate Children’s Hospital, our dedicated team knows the complex signs and symptoms. Our pediatric hematologists and support team have helped hundreds of children, offering treatments such as specialized blood replacement, hormone therapy and medications.

Our approach to blood disorders at Advocate Children’s Hospital

From your first appointment through early treatment and beyond, our care team spends time with your family to develop an individualized plan. We focus on your child’s medical, social and emotional needs, including:

• Routine care: Your child will likely see us several times a year for blood treatments and check-ups. They’ll arrive to find familiar faces and a warm, welcoming atmosphere.
• Medical tests: We carefully watch for potential effects of the blood disorder on your child and take quick action when needed.
• Community resources and family support: Our social worker connects your family with resources to manage these complex conditions.
• School support: Our dedicated school coordinator works with you to develop a school plan and communicate with teachers and administrators. We set up and attend meetings with the school if needed.
• Transition to adult care: A strong relationship with an adult specialist is essential as your child grows up. We help them (and you) make that happen through our partnership with Advocate Christ adult hematology.

Diagnostic tests for childhood blood disorders

Many blood disorders are hereditary, meaning a parent can pass them on. If doctors know about an inherited blood condition in your family, they run tests during pregnancy or soon after birth. Sometimes blood disorders are diagnosed later, when parents notice symptoms such as low energy or unusual bleeding or bruising.

Common ways our pediatric hematologists diagnose blood disorders include:

• Prenatal testing: Doctors may recommend these tests if your medical history means your baby is more likely to have a blood disorder. They check your baby’s blood while it’s still in your womb.
• Newborn screening: Your doctor or midwife collects a small amount of blood from your newborn’s heel and submits it for evaluation. This screening is standard for all U.S. births.
• Medical history and physical exam: Doctors ask about your family’s medical history, as well as any symptoms or conditions your child has.
• Blood tests: Doctors use blood tests to check for many types of blood disorders. Some tests show if blood is clotting too much or not enough. Others show doctors what cells look like or check for proteins and platelet counts.
• Hemoglobin electrophoresis: This test shows the amount and type of hemoglobin in the blood so doctors can compare it to the normal range.
• Genetic tests: Doctors might look for genetic changes to diagnose a blood disorder. They might also look at enzymes in the blood, which is called biochemical genetic testing.
• Bone marrow aspiration and biopsy: Marrow is the part of the bones that makes blood cells. Doctors sometimes take part of the bone marrow to determine if a child has a blood disorder. A biopsy is also conducted which involves collecting a sample of tissue which is analyzed to make a definitive blood disorder diagnosis.

Childhood blood disorder treatments

How blood disorders behave often varies from person to person, so we individualize treatment for your child. We also focus on lifelong care, including the management of symptoms and preventive care to lessen damage to organs and joints.

Blood disorders can be very mild, severe or somewhere in between. There are many specialized treatments for these conditions, including:

• Apheresis: This treatment takes blood from the body and removes harmful or damaged parts. The blood is then returned to the body, typically with healthy blood components donated from other people. Learn more about apheresis and treatment for sickle cell disease.
• Hormone therapy: Doctors may use hormones to treat von Willebrand disease and some types of hemophilia. These medications work by stimulating the development of substances that help with clotting.
• Transfusions: Children with anemia may receive blood transfusions to increase their red blood cells. Those children with thrombocytopenia may receive platelet transfusions.
• Medications: Doctors may treat children with a supplement such as folic acid or penicillin to prevent infections. Doctors may also prescribe medicines that prevent clotting such as aspirin or prescription drugs for children who have thrombophilia.

Managing complications and relieving pain

Children with blood disorders may face a greater risk of developing infections. Our care team helps find ways to prevent these complications. Your child’s doctor also monitors and treats other aspects of your child’s health during appointments, including:

• Issues with joints
• Impacts on vision
• Damage to organs

While pain is a common side effect of many blood disorders, we can help your child find relief with home treatments or medications. We also help them try to prevent pain through proper rest and hydration, moderate exercise, temperature regulation and stress management.

Clinical trials for blood disorders

We participate in clinical trials aimed at improving treatments for childhood blood disorders. It’s common for children with rare conditions such as blood disorders to get their care through a clinical trial. Learn more about our open clinical trials.