Actualización del registro español de hemoglobinopatías de niños y adultos

Cancho, Eduardo J. Bardón; García‐Morín, Marina; Beléndez, Cristina; Velasco, Pablo; Benéitez, David; Ruiz-Llobet, Anna; Berrueco, Rubén; Argilés, Bienvenida; Bravo, Áurea Cervera; Salinas, José Antonio; Vecilla, C; Gondra, Ainhoa.; Vallès, Griselda; Murciano, Thais; Bermúdez, Mar; Cela, Elena

doi:10.1016/j.medcli.2019.10.011

Cited by 11 publications

(3 citation statements)

References 21 publications

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“…A limited number of studies have reported population-based estimates of β-thalassemia, ranging from 0.2/100 000 people in Spain in the period 2014-2017 to 49.6/100 000 people in Iraq in the period 2003-2018 [10,11], and varying even within countries [12]. To better understand global βthalassemia burden and help direct public health policies, up-to-date epidemiological data are needed for many countries.…”

Section: Discussionmentioning

confidence: 99%

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

Dordevic,

Ugrin,

Mrakovcic Sutic

et al. 2024

Preprint

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Thalassemia syndromes are common monogenic disorders that represent a significant global health issue. No systematic epidemiological and molecular investigations on thalassemias in Croatian population have been reported to date. This prospective study included 70 children with a presumptive diagnosis of thalassemia, and their 42 first-degree relatives. Molecular characterization was performed using direct sequencing and gap-PCR methods. We identified 46 (30 children and 16 first-degree relatives) β-thalassemia heterozygous carriers from 24 unrelated families, carrying eight different mutations and one hemoglobin variant. Five variants account for approximately 85% of all affected β-globin alleles: Hb Lepore-Boston-Washington (32,6%), HBB: c.93-21G&gt;A (19,6%), HBB:c.315+1G&gt;A (13,1%), HBB:c.92+1G&gt;A (10,9%), and HBB:c.92+6T&gt;C variant (8,7%). A need for more detailed genetic profiling of β-thalassemia carriers is emphasized since genetic modifiers can significantly impact their phenotype. Our study provides important new insights into the relevance of β-thalassemia heterozygosity in the pediatric clinical practice.

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Section: Discussionmentioning

confidence: 99%

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

Dordevic,

Ugrin,

Mrakovcic Sutic

et al. 2024

Preprint

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“…In Madrid, the neonatal prevalence of haemoglobinopathy is 5.57 per 1,000 births; in the case of SCD, it is 1 per 6,250 births 7 . In other countries, such as the UK, between 12,500 and 15,000 people are estimated to have SCD 8 .…”

Section: Introductionmentioning

confidence: 99%

“…Since the creation in 2013 of the Spanish Registry of Haemoglobinopathies and Rare Anaemias (REHem-AR), the demographic and clinical characteristics of haemoglobinopathies have been recorded. The latest publication on this subject dates from 2019, with data updated up to 31 December 2017 7 . The progressive implementation of neonatal screening for SCD throughout Spain, as well as the inclusion of new centres in the registry during this period, has considerably increased the sample of patients.…”

Section: Introductionmentioning

confidence: 99%

Haemoglobinopathies and Other Rare Anemias in Spain: Ten Years of a Nationwide Registry (Rehem-ar)

Sanchez,

Cancho,

Beneitez

et al. 2024

Preprint

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REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years. An observational, descriptive, multicentre and ambispective study of adult and paediatric patients with haemoglobinopathies and rare anaemias registered in REHem was performed. The data are from a cross-sectional analysis performed on 1 June, 2023. The study population comprised 1,756 patients, of whom 1,317 had SCD, 214 had thalassaemia and 224 were diagnosed with another condition. Slightly more than one third of SCD patients (37%) were diagnosed based on neonatal bloodspot screening, and the mean age at diagnosis was 2.5 years; 71% of thalassaemia patients were diagnosed based on the presence of anaemia. Vaso-occlusive crisis and acute chest syndrome continue to be the most frequent complications in SCD. HSCT was performed in 83 patients with SCD and in 50 patients with thalassaemia. Since the previous publication, REHem-AR has grown in size by more than 500 cases. SCD and TM are less frequent in Spain than in other European countries, although the data show that rare anaemias are frequent within rare diseases. REHem-AR constitutes an important structure for following the natural history of rare anaemias and enables us to calculate investment needs for current and future treatments.

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Epidemiology of clinically significant forms of alpha‐ and beta‐thalassemia: A global map of evidence and gaps

Musallam¹,

Lombard

Kistler³

et al. 2023

American J Hematol

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This systematic literature review assessed the global prevalence and birth prevalence of clinically significant forms of alpha‐ and beta‐thalassemia. Embase, MEDLINE, and the Cochrane Library were searched for observational studies published January 1, 2000, to September 21, 2021. Of 2093 unique records identified, 69 studies reported across 70 publications met eligibility criteria, including 6 records identified from bibliography searches. Thalassemia prevalence estimates varied across countries and even within countries. Across 23 population‐based studies reporting clinically significant alpha‐thalassemia (e.g., hemoglobin H disease and hemoglobin Bart's hydrops fetalis) and/or beta‐thalassemia (beta‐thalassemia intermedia, major, and/or hemoglobin E/beta‐thalassemia), prevalence estimates per 100 000 people ranged from 0.2 in Spain (over 2014–2017) to 27.2 in Greece (2010–2015) for combined beta‐ plus alpha‐thalassemia; from 0.03 in Spain (2014–2017) to 4.5 in Malaysia (2007–2018) for alpha‐thalassemia; and from 0.2 in Spain (2014–2017) to 35.7 to 49.6 in Iraq (2003–2018) for beta‐thalassemia. Overall, the estimated prevalence of thalassemia followed the predicted pattern of being higher in the Middle East, Asia, and Mediterranean than in Europe or North America. However, population‐based prevalence estimates were not found for many countries, and there was heterogeneity in case definitions, diagnostic methodology, type of thalassemia reported, and details on transfusion requirements. Limited population‐based birth prevalence data were found. Twenty‐seven studies reported thalassemia prevalence from non–population‐based samples. Results from such studies likely do not have countrywide generalizability as they tended to be from highly specific groups. To fully understand the global prevalence of thalassemia, up‐to‐date, population‐based epidemiological data are needed for many countries.

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Actualización del registro español de hemoglobinopatías de niños y adultos

Cited by 11 publications

References 21 publications

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience

Haemoglobinopathies and Other Rare Anemias in Spain: Ten Years of a Nationwide Registry (Rehem-ar)

Epidemiology of clinically significant forms of alpha‐ and beta‐thalassemia: A global map of evidence and gaps

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