Related Experiment Video
Updated: Aug 10, 2026
Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
[Screening of hemoglobinopathies in a cohort of newborns in Madrid]
Belén Joyanes1, Manuel Moro, Paloma Ropero
1Servicio de Neonatología, Hospital Clínico San Carlos, Madrid, Spain.
Insights
Neonatal screening for hemoglobinopathies is crucial in Madrid. High-performance liquid chromatography (HPLC) Variant is an effective diagnostic tool, identifying 7.7 cases per 1,000 newborns.
Area of Science:
- Hematology
- Clinical Diagnostics
- Public Health
Context:
- Increasing incidence of congenital structural hemoglobinopathies in Madrid.
- Higher immigration rates contributing to the rise.
- Need for early detection and prophylactic measures.
Purpose:
- Determine the current incidence of hemoglobinopathies at Hospital Clinico San Carlos.
- Evaluate the suitability of laboratory diagnostic tests for screening.
- Establish the necessity of neonatal screening programs in Madrid.
Summary:
- An ambispective cohort study of 3,365 newborns was conducted.
- Cation exchange HPLC (Variant, Bio-Rad) was used for initial screening.
- Pathologic specimens were further analyzed by reversed-phase HPLC.
Impact:
- Hemoglobinopathy detected in 26 neonates (7.7 per 1,000).
- Identified cases include sickle cell disease, sickle cell trait, HbC, HbE/A2, and indeterminate cases.
- Confirms HPLC Variant as an appropriate and necessary technique for neonatal screening in Madrid.
Background And Objective:
Congenital structural hemoglobinopathies are a group of disorders whose incidence has experienced an increase in recent years, due to the higher number of immigrants living in the Region of Madrid. Given the possibility of starting early prophylactic measures, it seems advisable to carry out an screening of hemoglobinopathies in this region. The objective of this work was to know the current incidence of hemoglobinopathies in the Hospital Clinico San Carlos and to analyze the more suitable laboratory diagnostic tests.
Subjects And Method:
An ambispective cohort study, with 3,365 newborns studied at the Hospital Clinico San Carlos from May 2003 to June 2004. All were studied by cation exchange HPLC [Variant (Bio-Rad)] and pathologic specimens were analyzed by reversed phase HPLC.
Results:
Hemoglobinophaty was detected in 26 children with the HPLC Variant, with a global incidence of 7.7 per 1,000 newborns: 1 case of sickle cell disease, 18 cases of sickle cell trait, 1 HbC, 1 HbE/A2 and five indeterminate cases.
Conclusions:
Neonatal screening for hemoglobinopathies in the Region of Madrid is necessary, and the HPLC Variant is an appropriate technique.
