Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis.
BACKGROUND
Haemoglobinopathies are a major public health problem in Sicily: it was estimated a frequency of 1/245 couples are at risk of haemoglobinopathies. This paper reviews legislative actions, prevention activities, carrier screening, genetic counselling, foetal sampling and laboratory methodology analysis evolution reporting the results of 30 years of prevention actions to assess the efficiency of our preventative programme in the control of haemoglobinopathies in Sicily.


METHODS
This programme consisted principally of five phases: legislative actions, public awareness campaign, carrier screening, genetic counselling and prenatal diagnosis.


RESULTS
These programmes have been very effective, which we can see from a greater public awareness of thalassaemia and its prevention in the target population furthermore by a marked decline in the incidence of thalassaemia major and sickle cell anaemia from 1 in 245 live births in the absence of prevention to 1 in 2000, with a reduction in about 85%. The residual cases were because of a conscious choice by expecting parents in relation to improved life expectancy as well as improved quality of life of the affected patients.


CONCLUSIONS
The study suggests that public health authorities should act and invest in a similar programme for prevention of thalassaemia, as well as in relation to the increased survival of patients and the consequent organ complications.
Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Laboratory for Molecular Prenatal of Hemoglobinipathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
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Giambona
U.O.C. of Gynecology and Obstetrics, U.O.S. Prenatal Diagnosis, A.O.R. Villa Sofia-Cervello Hospital, Palermo, Italy.
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Damiani
Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Laboratory for Molecular Prenatal of Hemoglobinipathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
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Vinciguerra
U.O.C. of Gynecology and Obstetrics, U.O.S. Prenatal Diagnosis, A.O.R. Villa Sofia-Cervello Hospital, Palermo, Italy.
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Jakil
Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Laboratory for Molecular Prenatal of Hemoglobinipathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
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Cannata
Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Laboratory for Molecular Prenatal of Hemoglobinipathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
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Cassarà
U.O.C. of Gynecology and Obstetrics, U.O.S. Prenatal Diagnosis, A.O.R. Villa Sofia-Cervello Hospital, Palermo, Italy.
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Picciotto
U.O.C. of Gynecology and Obstetrics, U.O.S. Prenatal Diagnosis, A.O.R. Villa Sofia-Cervello Hospital, Palermo, Italy.
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Schillaci
U.O.C. of Gynecology and Obstetrics, U.O.S. Prenatal Diagnosis, A.O.R. Villa Sofia-Cervello Hospital, Palermo, Italy.
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Cigna
Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Laboratory for Molecular Prenatal of Hemoglobinipathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
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Renda
Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Laboratory for Molecular Prenatal of Hemoglobinipathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
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Leto
Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Laboratory for Molecular Prenatal of Hemoglobinipathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
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Passarello
Department of Hematology for Rare Diseases of Blood and Blood-forming Organs, Laboratory for Molecular Prenatal of Hemoglobinipathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
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Maggio
D000293:Adolescent; D000328:Adult; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D012802:Sicily / Q000453:epidemiology; D055815:Young Adult