Should babies be evaluated by hematologists (blood specialists) if a blood disorder is suspected?

Evaluation of Babies by Hematologists for Suspected Blood Disorders

Babies with suspected blood disorders should be evaluated by a pediatric hematologist when initial testing suggests the presence of a bleeding disorder, when expanded testing is necessary, or when testing for rare conditions is preferred. 1

When to Consult a Pediatric Hematologist

The American Academy of Pediatrics provides clear guidance on when babies should be evaluated by hematology specialists:

• When preliminary testing suggests the presence of a bleeding disorder
• When specific, expanded testing beyond initial screening is necessary
• When testing to rule out a specific bleeding disorder is needed
• When testing for very rare conditions is preferred 1

Initial Evaluation Process

For babies presenting with concerning bleeding or bruising:

1. Initial screening tests should be performed by the primary physician:

   • Complete blood count with peripheral blood smear
   • Prothrombin time (PT)
   • Activated partial thromboplastin time (aPTT) 1, 2

2. Additional first-line tests may include:

   • Fibrinogen concentration
   • Thrombin time (for fibrinogen defects)
   • Von Willebrand factor testing (when VWD is suspected) 1

Specific Clinical Scenarios Requiring Hematology Consultation

For Babies with Bruising/Bleeding Suspicious for Abuse

• Pediatric hematologist consultation is essential when laboratory tests suggest a bleeding disorder that could explain the clinical findings 1
• Close collaboration ensures proper interpretation of test results, as many tests (particularly platelet function tests) require specialized expertise 1

For Neonates with Thrombocytopenia

• Babies with platelet counts below 100,000/mm³ should be evaluated for the cause of thrombocytopenia 3
• Hematology consultation is particularly important for suspected neonatal alloimmune thrombocytopenia (NAIT), which can cause significant morbidity and mortality 4

For Suspected Hemophilia or Other Factor Deficiencies

• Early hematology involvement is crucial as approaches to treatment have shifted toward prophylaxis to prevent hemophilic arthropathy 4
• Mild factor deficiencies might not cause abnormalities in screening tests but could still result in significant bleeding, including intracranial hemorrhage 1

Important Considerations

• Proper specimen handling: Coagulation tests must be performed in laboratories experienced with these assays, as inappropriate handling commonly leads to false-positive results 1

• Timing of evaluation: For babies who have received blood product transfusions, screening for bleeding disorders should be delayed until elimination of the transfused blood clotting elements 1

• Comprehensive approach: The American Academy of Pediatrics emphasizes that no single panel of tests rules out every possible bleeding disorder 1

Pitfalls to Avoid

• Premature conclusions: Using a structured bleeding assessment tool helps avoid inadequate history-taking and premature conclusions 2

• Overlooking mild disorders: Mild deficiencies in factor VIII or IX might not cause abnormalities in the aPTT but could still result in significant bleeding 1

• Assuming bleeding disorders exclude abuse: Laboratory testing suggesting a bleeding disorder does not eliminate abuse from consideration 1

• Delayed diagnosis: Failure to recognize the need for hematology consultation may delay diagnosis of rare but significant bleeding disorders in infants 1, 4

The American Academy of Pediatrics emphasizes that close collaboration with a pediatric hematologist is necessary to ensure the most current evaluation and testing methods for babies with suspected bleeding disorders 1.