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There are four main categories of severe disease states, for which genetic counselling, and possibly prenatal diagnosis, is indicated, as follows (Tables 1, 2 and 3).In many populations β-thalassaemia syndromes (and related conditions caused by haemoglobin variants such as Hb S and Hb E) are clinically more relevant than the α-thalassaemias, since the severe forms are more common and require life-long treatment and clinical management.Some structural variants are additionally associated with an altered rate of synthesis. Within the context of managing the health burden of the haemoglobinopathies, laboratory diagnosis plays a key role, identifying carrier couples and offering them reproductive choices.

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These guidelines will focus on best practice in laboratory methods and interpretation of results for carrier identification and prenatal diagnosis.

For the best strategy to detect at-risk couples there are certain factors that should also be taken into consideration, including the frequency of the disease in endemic and non-endemic immigration countries, the heterogeneity of the genetic defects in the target society, the knowledge of genotype–phenotype correlation (supported by access to original papers as well as to genomic databases), the resources available and finally the social, legal, cultural and religious factors.

Even with perinatal treatment it is a very severe condition with these patients requiring lifetime transfusion therapy and iron chelation and some children also have long term neurological complications.

Furthermore, hydropic pregnancies are frequently associated with serious complications in the mother, and most pregnancies in which the fetus is diagnosed as affected are terminated due to the increased risk of both fetal and maternal morbidity.

However, in populations that have a high prevalence of α°-thalassaemia defects, such as the Chinese and many South East Asian populations, or in countries with significant immigrant populations from these areas, α-thalassaemias are also relevant.

The severest form of α-thalassaemia, Hb Bart’s Hydrops Fetalis, is usually fatal as infants either die in utero (23–38 weeks) or shortly after birth (unless subjected to intrauterine blood transfusion therapy).Thus these guidelines are expected to be useful for laboratories in all regions of the world, and not only those where the haemoglobinopathies are traditionally endemic.External Quality Assessment (EQA) is an intrinsic part of Best Practice.In the HBB gene locus, more than 280 genetic variations (variants) causing β-thalassaemia have been described, the majority of which are point variants.In the HBA1 and HBA2 genes and wider locus, more than 100 α-thalassaemia variants have been reported most of which involve deletions within the α-globin gene cluster.They are caused by variants that affect the genes that direct synthesis of the globin chains of haemoglobin, and may result in altered synthesis (thalassaemia syndromes and hereditary persistence of fetal haemoglobin (HPFH)) or structural changes (sickling of the red blood cells, haemolytic anaemia, polycythaemia or more rarely cyanosis).

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