Global epidemiology of haemoglobin disorders and derived service indicators

Global epidemiology of haemoglobin disorders and derived service indicators

June 2008 | Bernadette Modell & Matthew Darlison
Public health reviews: Global epidemiology of haemoglobin disorders and derived service indicators This paper presents a method for using genetic epidemiological data to assess the needs for equitable and cost-effective services for the treatment and prevention of haemoglobin disorders. Data on demographics and prevalence of gene variants responsible for haemoglobin disorders were obtained from online databases, reference resources, and published articles. A global epidemiological database for haemoglobin disorders by country was established, including five practical service indicators to express the needs for care (indicator 1) and prevention (indicators 2–5). Haemoglobin disorders are a significant health problem in 71% of 229 countries, including 89% of all births worldwide. Over 330,000 affected infants are born annually, with 83% having sickle cell disorders and 17% having thalassaemias. Haemoglobin disorders account for about 3.4% of deaths in children under 5 years of age. Globally, around 7% of pregnant women carry β or α zero thalassaemia, or haemoglobin S, C, D Punjab or E, and over 1% of couples are at risk. Carriers and at-risk couples should be informed of their risk and the options for reducing it. Screening for haemoglobin disorders should form part of basic health services in most countries. Inherited haemoglobin disorders (sickle-cell disorders and thalassaemias) were originally characteristic of the tropics and subtropics but are now common worldwide due to migration. Since they can be controlled cost-effectively by programmes that integrate treatment with carrier detection and genetic counselling, WHO has recommended global development of these services. However, service development can be unexpectedly challenging, because it requires inclusion of genetic approaches in health systems. The diversity and heterogeneous distribution of haemoglobin disorders make it necessary to develop strategies at the country level. To assist policymakers, we use haemoglobin disorders as an example to show how genetic epidemiological data can be interpreted in terms of administrative boundaries (and/or ethnic group) and practical service indicators. The work was initiated for WHO and further developed in the United Kingdom, where it is used for local needs-assessment. Global data are available at: www.chime.ucl.ac.uk/work-areas/cab. Genetic terminology can be impenetrable to non-specialists. In this paper, we use terms proposed for more general use by the Professional Education for Genetic Assessment and Screening (PEGASUS) Genetic Education Programme of the United Kingdom National Screening Committee: haemoglobin disorders include sickle-cell disorders and thalassaemias; haemoglobin gene variants are haemoglobinopathies; significant variants are gene variants that can cause a serious disorder; carriers are healthy heterozygotes; people with combinations of gene variants are homozygotes and compound heterozygotes; andPublic health reviews: Global epidemiology of haemoglobin disorders and derived service indicators This paper presents a method for using genetic epidemiological data to assess the needs for equitable and cost-effective services for the treatment and prevention of haemoglobin disorders. Data on demographics and prevalence of gene variants responsible for haemoglobin disorders were obtained from online databases, reference resources, and published articles. A global epidemiological database for haemoglobin disorders by country was established, including five practical service indicators to express the needs for care (indicator 1) and prevention (indicators 2–5). Haemoglobin disorders are a significant health problem in 71% of 229 countries, including 89% of all births worldwide. Over 330,000 affected infants are born annually, with 83% having sickle cell disorders and 17% having thalassaemias. Haemoglobin disorders account for about 3.4% of deaths in children under 5 years of age. Globally, around 7% of pregnant women carry β or α zero thalassaemia, or haemoglobin S, C, D Punjab or E, and over 1% of couples are at risk. Carriers and at-risk couples should be informed of their risk and the options for reducing it. Screening for haemoglobin disorders should form part of basic health services in most countries. Inherited haemoglobin disorders (sickle-cell disorders and thalassaemias) were originally characteristic of the tropics and subtropics but are now common worldwide due to migration. Since they can be controlled cost-effectively by programmes that integrate treatment with carrier detection and genetic counselling, WHO has recommended global development of these services. However, service development can be unexpectedly challenging, because it requires inclusion of genetic approaches in health systems. The diversity and heterogeneous distribution of haemoglobin disorders make it necessary to develop strategies at the country level. To assist policymakers, we use haemoglobin disorders as an example to show how genetic epidemiological data can be interpreted in terms of administrative boundaries (and/or ethnic group) and practical service indicators. The work was initiated for WHO and further developed in the United Kingdom, where it is used for local needs-assessment. Global data are available at: www.chime.ucl.ac.uk/work-areas/cab. Genetic terminology can be impenetrable to non-specialists. In this paper, we use terms proposed for more general use by the Professional Education for Genetic Assessment and Screening (PEGASUS) Genetic Education Programme of the United Kingdom National Screening Committee: haemoglobin disorders include sickle-cell disorders and thalassaemias; haemoglobin gene variants are haemoglobinopathies; significant variants are gene variants that can cause a serious disorder; carriers are healthy heterozygotes; people with combinations of gene variants are homozygotes and compound heterozygotes; and
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