Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis

Giambona, Antonino; Damiani, Gianfranco; Vinciguerra, Margherita; Jakil, Cristina; Cannata, Monica; Cassarà, Filippo; Picciotto, Francesco; Schillaci, Giovanna; Cigna, Valentina; Renda, Disma; Leto, Filippo; Passarello, Cristina; Maggio, Aurelio

doi:10.1111/ijcp.12628

Cited by 21 publications

(25 citation statements)

References 41 publications

(39 reference statements)

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“…59,60 In Sicily, an 85% decrease in the in- counseling, and prenatal diagnosis. 61 In addition, a universal screening program for hemoglobinopathies is active for couples before and/or after conception, according to Italian law, given that Italy is considered an area endemic for hemoglobinopathies. 61 In Cyprus, a prevention program was introduced in 1973 and has led to a significant decrease in the number of affected babies born.…”

Section: Prevention Programsmentioning

confidence: 99%

Changing patterns in the epidemiology of β‐thalassemia

Kattamis

Forni

Aydınok

et al. 2020

European J of Haematology

178

114

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β-thalassemias are a heterogeneous group of hereditary hemoglobinopathies characterized by defects in the β-globin chain of hemoglobin and autosomal recessive inheritance. Homozygous or compound heterozygous forms have an imbalance in the production of α-and non-α-globin chains, resulting in ineffective erythropoiesis and decreased production of normal hemoglobin A. 1 Patients with β-thalassemia major have severe chronic hemolytic anemia and require regular blood transfusions from early childhood. 1-3 Chronic blood transfusion therapy is typically combined with iron chelation therapy (ICT) to prevent complications due to iron overload, such as cardiac morbidity, liver disease, and endocrine dysfunction. 1-3 Patients with β-thalassemia intermedia have symptoms in between carriers and those with β-thalassemia major: Anemia is often moderate, but patients may still have morbidity due to ineffective erythropoiesis and hemolysis, including ulcers, pulmonary hypertension, and pain. Some patients require occasional blood transfusions, although less frequently than patients with β-thalassemia major. 1,2 Historically, the prevalence of β-thalassemia has been highest in the Mediterranean region, the Middle East, and Southeast Asia and lowest in Northern Europe and North America. 4 Due to migration patterns, β-thalassemia is increasingly more common in non-endemic regions,

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Section: Prevention Programsmentioning

confidence: 99%

Changing patterns in the epidemiology of β‐thalassemia

Kattamis

Forni

Aydınok

et al. 2020

European J of Haematology

178

114

View full text Add to dashboard Cite

show abstract

“…In particular, we referred to our prevalence data for haemoglobinopathies in Sicily,4 our retrospective study on a cohort of 10 205 subjects (8875 carriers of β-globin gene defects and 1330 carriers of a variant haemoglobin of β-globin gene)6 and our retrospective study on a cohort of 3825 subjects carriers of α-thalassemia (Passarello C, personal communication).…”

Section: Methodsmentioning

confidence: 99%

Phenotypic evaluations ofHBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene

et al. 2017

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This nucleotide can be considered a single nucleotide polymorphism and not a thalassaemic mutation that reduces the production of haemoglobin. This is another example of a very rare nucleotide variation. Knowledge of this is important so that appropriate genetic counselling can be carried out of a couple potentially at risk, where one of the partners is a carrier of β-thalassaemia and the other is carrier of a nucleotide variation.

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“…We compared the haematological parameters for each categories (HBB: c.−106G > C in heterozygous state and in co-inheritance with other defects in the globin genes) on the base of 35837 subjects who underwent to screening test for haemoglobinopathies in our Centre from 2003 to now, with or without molecular analysis of globin genes depending on phenotype, and on the base of published data. Particularly, we referred to our data of prevalence of haemoglobinopathies in Sicily, our retrospective study on a cohort of 10205 subjects (8875 carriers of beta-globin gene defects and 1330 carriers of a variant haemoglobin of beta-globin gene) [15] and our retrospective study on a cohort of 3825 subjects carriers of α-thalassaemia and rearrangements in alpha globin genes cluster (Passarello C, personal communication).…”

Section: Second Level Analysismentioning

confidence: 99%

Co-inheritance ofHBB:c.−106G > C, a rare single nucleotide variation at position −56 relative to transcription initiation site, with other known mutations in the globin clusters

et al. 2017

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Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis

Abstract: 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.

Cited by 21 publications

References 41 publications

Changing patterns in the epidemiology of β‐thalassemia

Changing patterns in the epidemiology of β‐thalassemia

Phenotypic evaluations ofHBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene

Co-inheritance ofHBB:c.−106G > C, a rare single nucleotide variation at position −56 relative to transcription initiation site, with other known mutations in the globin clusters

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