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 period in the country of origin.
They may present with features of sickle cell disease such as:
Unexplained bone pain
Paleness
Hand-foot syndrome
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...
Sickle cell disease (SCD) is a red blood cell disease, a complex inherited disorder with multisystem manifestations that requires specialized comprehensive care to achieve an optimal...
Medical treatment hemoglobinopathy
Increased expression of fetal hemoglobin (HbF) may...
Building the Rare Disease knowledge and information ecosystem
