From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience

Monni, Giovanni; Peddes, C.; Iuculano, Ambra; Ibba, Rosa Maria

doi:10.3390/jcm7020035

Cited by 32 publications

(30 citation statements)

References 65 publications

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“…59,60 Free voluntary carrier screening as well as prenatal and preimplantation genetic diagnostics are available nationwide. 57,60 Increasing awareness among the general population, leading to acceptance of screening, has been a major success factor of the Italian prevention program. 32,60 In a report covering 40 years of experience with a screening program in Sardinia, the main causes of affected births (3-5 annually in recent years) were false paternity and decline of prenatal screening and pregnancy termination.…”

Section: Prevention Programsmentioning

confidence: 99%

“…57,60 Increasing awareness among the general population, leading to acceptance of screening, has been a major success factor of the Italian prevention program. 32,60 In a report covering 40 years of experience with a screening program in Sardinia, the main causes of affected births (3-5 annually in recent years) were false paternity and decline of prenatal screening and pregnancy termination. 59,60 In Sicily, an 85% decrease in the in- counseling, and prenatal diagnosis.…”

Section: Prevention Programsmentioning

confidence: 99%

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Changing patterns in the epidemiology of β‐thalassemia

Kattamis

Forni

Aydınok

et al. 2020

European J of Haematology

195

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%

Section: Prevention Programsmentioning

confidence: 99%

Changing patterns in the epidemiology of β‐thalassemia

Kattamis

Forni

Aydınok

et al. 2020

European J of Haematology

195

114

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“…It is believed that codon 39 (C> T) is of Roman origin, and has a high prevalence in Sardinia, mainland Italy, Spain, Portugal and Tunisia (19). Different studies also found this mutation to be frequent in Venezuela (18), Northern Greece (20), Syria (21), and confirmed it in Tunisia (22) and Italy (23).…”

mentioning

confidence: 74%

Use of an automated pyrosequencing technique for confirmation of Sickle Cell Disease

Martino

Alencar

Loureiro

et al. 2019

Preprint

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22Background: The diagnosis of sickle cell disease (SCD) is made by hemoglobin assays such 23 as high-performance liquid chromatography (HPLC), isoelectric focusing and cellulose 24 acetate or citrate agar electrophoresis. These assays are easy to perform and used in large-25 scale newborn screening in many countries. These tests however may not easily differentiate 26 Sβ 0 thalassemia from SS or identify other hemoglobin variants, and in this case, hemoglobin 27 (HBB) gene sequencing may be necessary. Objectives: To develop a high throughput DNA 28 based confirmatory assay for SCD and to detect mutations in the HBB gene. Methods: We 29 developed an automated pyrosequencing technique (PyS) based on QIAGEN technology 30 (Hilden, Germany) to detect homozygous or heterozygous hemoglobin S mutations as well as 31 hemoglobin C mutations. The technique was tested on 2,748 samples from patients enrolled in 32 a multi-center SCD cohort in Brazil. Patients were previously tested using HPLC to diagnose 33 SCD as part of routine clinical care. Any subjects with discrepant results between HPLC and 34 PyS or with heterozygous hemoglobin S detected had Sanger sequencing of the HBB gene.35 Results: We identified 168 samples with discrepant results between HPLC and PyS and 100 36 with concordant HPLC and PyS= heterozygous S, which would suggest Sβ-thalassemia or 37 other hemoglobin S variants. The PyS assay correctly identified 1906 (98.7%) of the 1930 38 HbSS and 628 (98.7%) of the 636 HbSC samples. Of the 179 remaining samples, PyS 39 correctly indicated S heterozygosis in 165 (92.2%). Of the 165 heterozygous S samples 40 confirmed by Sanger as consistent with Sβ thalassemia genotype, 84 samples were classified 41 as Sβ 0 thalassemia and 81 as Sβ + thalassemia. The most frequent beta thalassemia mutations 42 of Sβ 0 and Sβ + were HBB: c.118C>T (Gln40Stop) and HBB c.92 + 6T> C, respectively.43Discussion: The PyS proved to be satisfactory for large-scale confirmatory testing of 44 hemoglobin mutation. Moreover, with this study we were able to describe the most common 45 3 β + and β 0 mutations in SCD patients with Sβ-thalassemia in a large multi-institutional SCD 46 cohort in Brazil. 47

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“…The prevention and control of thalassemias in any national program require a planned program and consultations with all the major stakeholders to establish the various components needed to ensure its success. The program must include an education component for the professionals and public, optimal treatment of the affected patient including safe blood transfusion and iron chelation therapy, cascade screening of the family and population‐wide screening, a registry to provide epidemiological data and a preventive program that may include genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis (Monni, Peddes, Iuculano, & Ibba, ). This holistic approach is cost‐effective and had proven to be successful in reducing the frequency of thalassaemia in many countries such as Cyprus and Greece (Kyrri et al, ; Ladis, Karagiorga‐Lagana, Tsatra, & Chouliaras, ).…”

Section: Prevention and Control Of Thalassemia In The Asian Regionmentioning

confidence: 99%

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions

Thong

2019

American J of Med Genetics Pt C

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which included a set of 17 measurable "sustainable development goals" (SDGs).The SDGs included targets to end preventable deaths of newborns and children under 5 years of age by 2030, universal health care coverage, reduction of premature mortality from noncommunicable diseases (NCDs) by 33% as well as support the development and research for medicines for both communicable and NCDs. Although some successes were achieved in combating communicable diseases and improved childhood mortality rates, health systems in Asia are generally characterized by lack of accurate epidemiological information on congenital disorders, lack of human and financial resources, and inadequate focus on public health strategies to ensure targeted interventions, low level knowledge on congenital disorders amongst the community and healthcare providers and the ethical dilemma of managing rare congenital disorders in an environment of low national health expenditures. These bottlenecks must be addressed systematically and interventions such as the use of innovative epidemiological tools to overcome lack of data, increased efforts to standardize rare disease nomenclature and classification and renewed interest in birth defects registries by countries in the region must be considered. Targeted curative and public health approaches currently used in thalassaemia and neural tube defects may be used for other congenital disorders in Asian countries. The implementation of congenital disorders-related research, prevention, care, and treatment delivery services must be integrated into existing health systems in order to be effective to achieve the targets of SDG2030.

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From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience

Cited by 32 publications

References 65 publications

Changing patterns in the epidemiology of β‐thalassemia

Changing patterns in the epidemiology of β‐thalassemia

Use of an automated pyrosequencing technique for confirmation of Sickle Cell Disease

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions

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