Global epidemiology of haemoglobin disorders and derived service indicators

TLDR

To demonstrate 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. The authors compiled demographic and gene‑variant prevalence data from online databases, reference resources, and published studies to build a global epidemiological database of haemoglobin disorders by country, incorporating five practical service indicators for care and prevention. Haemoglobin disorders affect 71 % of 229 countries, accounting for 89 % of all births, 330 000 affected infants annually (83 % sickle cell, 17 % thalassaemia), 3.4 % of deaths in children under five, and 7 % of pregnant women carry a thalassaemia or haemoglobin variant, with over 1 % of couples at risk, underscoring the need for carrier counseling and inclusion of screening in basic health services.

Abstract

To demonstrate 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. We obtained data on demographics and prevalence of gene variants responsible for haemoglobin disorders 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 present a significant health problem in 71% of 229 countries, and these 71% of countries include 89% of all births worldwide. Over 330,000 affected infants are born annually (83% sickle cell disorders, 17% thalassaemias). Haemoglobin disorders account for about 3.4% of deaths in children less than 5 years of age. Globally, around 7% of pregnant women carry b or a 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.