Population Screening for Hemoglobinopathies

Abstract

Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies.

Antenatal screening for haemoglobinopathies: current status, barriers and ethics

“…Antenatal (or population‐based, pre‐marital or pre‐conceptual) haemoglobinopathy screening methods include laboratory and field‐based blood tests as well as information regarding family origin. Choice of methods used depends on individual national policies and is determined by cost of the tests, the type of prevalent haemoglobin disorders, ethnic diversity of the population screened and infrastructure available to support the screening programmes (Goonasekera et al , ).…”

“…Additionally, pre‐marital, pre‐conceptual or antenatal screening for thalassaemia is available in Palestine, Israel, Madagascar and Italy, (Cousens et al , ) among others. Many Asian countries with high prevalence of β‐ and α‐thalassaemia also have well‐established antenatal screening programmes; notably the Maldives (since 1992; mandatory since 2012), Sri Lanka (national pre‐marital and population screening started in 2006), Thailand (since 1997), Singapore (since 1997), Malaysia, Philippines and Hong Kong (Goonasekera et al , ). Screening for thalassaemia, SCD and other β‐haemoglobinopathies is available in certain pockets of high prevalence in India, targeting tribal groups in Central and Southern India, and in the States of Gujarat and West Bengal.…”

“…Here, the focus is often on antenatal screening and cascade screening of family members of affected individuals, owing to the stigma associated with having a haemoglobinopathy carrier status before marriage (Colah et al , ; Verma et al , ). Antenatal screening for thalassaemia in high‐income, low prevalence countries, such as the UK, Canada and Australia were established at the turn of the 21 st century (Goonasekera et al , ). England is unique in this respect and is the only country where a linked programme of antenatal and postnatal thalassaemia and SCD screening is in existence.…”

Updated Worldwide Epidemiology of Inherited Erythrocyte Disorders

“…Disease management in modern healthcare systems, increasingly plagued by limited public funding and reduced economic resources, always requires to garner reliable epidemiologic information that can then be used for implementing healthcare policies aimed at more efficiently preventing, diagnosing and more accurately managing human diseases [7]. Inherited RBC disorders make no exception to this rule, since a timely diagnosis and an effective treatment may be effective to consistently reduce the clinical, societal and economic burden of these conditions [1, 8].…”

Rapid, Affordable and Efficient Screening of Multiple Blood Abnormalities Made Possible Using an Automated Tool for MALDI-ToF Spectrometry Analysis

“…This early stage of the 2 of 14 disease is called pre-diabetes and preventive medicine is considered advantageous to reduce the burden of diabetes in the healthcare systems [8]. So far, rapid, effective and affordable methodologies towards screening of haemoglobinopathies, thalassemias and pre-diabetes detection in large populations are still problematic due to economic and technical constraints [8,9].…”