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Updated: Apr 26, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
[Haemoglobinopathy in the 21st century: incidence, diagnosis and heel prick screening]
Monique H Suijker1, E A Lian Roovers, C J Karin Fijnvandraat
1Emma Kinderziekenhuis/AMC, afd. Kinderhematologie, Amsterdam.
Insights
Severe haemoglobinopathy diagnoses in the Netherlands have tripled. Early diagnosis through heel prick screening is crucial, but targeted screening for newborns from at-risk regions is recommended for comprehensive benefit.
Area of Science:
- Medical Science
- Genetics
- Paediatrics
Background:
- Severe haemoglobinopathies, including HbH disease, sickle cell disease, and beta thalassaemia major, are hereditary blood disorders.
- Early diagnosis and intervention are critical for managing these conditions and improving patient outcomes.
Purpose of the Study:
- To determine the incidence of severe haemoglobinopathy in the Netherlands.
- To evaluate the effectiveness of heel prick screening for early detection.
- To identify children who may not benefit from current early diagnosis strategies.
Main Methods:
- A prospective descriptive study was conducted in the Netherlands between 2003 and 2009.
- Data were collected through the Dutch Paediatric Surveillance Unit, TNO, and questionnaires for symptomatic and asymptomatic children newly diagnosed with severe haemoglobinopathies.
- Anonymised reports were used to register cases of HbH disease, sickle cell disease, and beta thalassaemia major.
Main Results:
- An average of 48 children per year were diagnosed with severe haemoglobinopathy, with an overall incidence of 2.5 per 10,000 live births.
- Heel prick screening detected sickle cell disease at 2.1/10,000 and thalassaemia major at 0.6/10,000 live births.
- A significant proportion (22%) of affected children were not born in the Netherlands, with specific ethnic origins linked to the type of haemoglobinopathy.
Conclusions:
- The incidence of severe haemoglobinopathy in the Netherlands has tripled since 1992.
- While heel prick screening is effective, it may not benefit all children.
- Testing children from at-risk regions upon arrival in the Netherlands is recommended for universal benefit from early diagnosis and treatment.
Objective:
To determine the incidence of severe haemoglobinopathy, to evaluate the effect of heel prick screening, and to identify those children who do not benefit from this early diagnosis.
Design:
Prospective descriptive study.
Method:
Registration of all symptomatic and asymptomatic children who between 2003-2009 were newly diagnosed with the a severe form of a hereditary disorder concerning the formation of the alpha haemoglobin chain (HbH disease), or the beta haemoglobin chain (sickle cell disease or beta thalassaemia major) in the Netherlands. Registration was done by collecting anonymised reports from the Dutch Paediatric Surveillance Unit and TNO, and by additional questionnaires.
Results:
During the study period, 48 children (range: 36-76) per year were diagnosed with severe haemoglobinopathy. The overall incidence was 2.5 per 10,000 live births. The incidence of sickle cell disease diagnosed by heel prick screening was 2.1 per 10,000 live births and of thalassaemia major 0.6 per 10,000 live births. In 7% of the children with sickle cell disease who were diagnosed without any form of screening, the diagnosis was made on (a life threatening) infection. Twenty-two percent of the children with a severe form of haemoglobinopathy were not born in the Netherlands. The parents of almost half of the children with sickle cell disease originally came from West- or Central Africa. The parents of children with thalassaemia major were mainly from Morocco or various Asiatic countries.
Conclusion:
The number of children with severe haemoglobinopathy in the Netherlands has trebled since 1992. In order for all children to benefit from early diagnosis and preventive treatment, it is advisable that children who originate from risk areas should be tested for haemoglobinopathy when they first arrive in the Netherlands.
