Cord Blood vs Genetic Testing
If there is a history of hemophilia in your family or if the mother is a known carrier of hemophilia, the IHTC can provide a cord blood test kit to help rapidly diagnose hemophilia in newborns.
It is critical for pregnant women who are carriers of hemophilia (or potentially are), to notify their OB/GYN of their carrier status to help protect both themselves and their baby during and immediately after birth. Cord blood testing is usually reliable, but may not always be completely accurate in some cases of mild hemophilia.
The IHTC recommends that diagnostic tests be performed in your newborn child when any of any of the following symptoms are observed:
- Bleeding following the routine collection of a blood sample (e.g., a “heel stick”)
- Bleeding or painful, raised bruise following an immunization
- Bleeding following circumcision
- Head bleeds
- Signs of bruising
Hemophilia A (factor VIII deficiency) can be diagnosed any time after birth because newborns should have normal levels of factor VIII. The exception to this rule is patients with mild FVIII. FVIII can be elevated into the normal range at birth. This level should return to baseline within a couple days of delivery.
In contrast, factor IX levels are low during the newborn period and may take 6 months to reach normal levels. Therefore, mild hemophilia B (factor IX deficiency) may be more difficult to diagnose in the newborn period. It is often advised to recheck the factor VIII or IX levels when the baby is 3 to 6 months old to confirm a diagnosis of hemophilia. Until then, an infant with suspected hemophilia should be treated as if he does have hemophilia.
Genetic testing may be performed to confirm your or your child’s diagnosis of hemophilia. The IHTC staff can advise physicians on which tests to order and how to interpret the results, especially for patients who are experiencing or have a history of bleeding.