Neonatal screening sickle cell disease

When sickle cell disease is suspected by the HPLC pattern usually additional tests are performed to confirm the diagnosis. Ultimately it would be best to perform mutation analysis.

It should be kept in mind that migrant children may not have been screened in the neonatal periodĀ in the country of origin.

They may present with features of sickle cell disease such as:

Unexplained bone pain

Paleness

Hand-foot syndrome

Last modified
18 August 2018
Feature

For hemoglobinopathies, neonatal screening can be performed by high-performance liquid chromatography (HPLC). The height of the peak of the different hemoglobin types will reveal an...

Rare Condition

Sickle Cell Disease

Sickle cell disease (SCD) is a red blood cellĀ disease, a complex inherited disorder with multisystem manifestations that requires specialized comprehensive care to achieve an optimal...

Disease

Medical treatment hemoglobinopathy

Increased expression of fetal hemoglobin (HbF) may...