Update of the Spanish registry of haemoglobinopathies in children and adults

Cancho, Eduardo J. Bardón; García‐Morín, Marina; Beléndez, Cristina; Velasco, P De Juana; 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.medcle.2019.10.007

Cited by 7 publications

(14 citation statements)

References 22 publications

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“…A total of 9 studies reported population‐based estimates of the combined beta‐ plus alpha‐thalassemia prevalence; data were from North America (the US 20 and the US and Canada combined 27 ), Europe (Denmark, 29 England, 24 the Netherlands, 35 Greece, 33 and Spain 37 ), Asia (Malaysia 39 ), and the Middle East (Iran 40 ), ranging from 0.2/100 000 in Spain 37 for the period 2014–2017 to 27.2/100 000 in Greece 33 for the period 2010–2015 for clinically significant forms of the disease (Table 1 and Figure 3A). Prevalence data for each country was only available from 1 study each.…”

Section: Resultsmentioning

confidence: 99%

“…Furthermore, we extrapolated the estimate from this last study to the whole US population considering ethnic distributions within each state and US census data from 2017 and estimated the US prevalence of alpha‐ and beta‐thalassemia to be 3.5/100 000 for 2017 (11 262 estimated thalassemia patients in the US). The ratio of beta‐thalassemia/alpha‐thalassemia was reported in seven population‐based studies (the US and Canada combined, 27 Denmark, 29 England, 24 Greece, 33 the Netherlands, 35 Spain, 37 and Malaysia 39 ), ranging from 1.6/1 in Denmark 29 to 13.3/1 in Greece 33 …”

Section: Resultsmentioning

confidence: 99%

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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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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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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“…5,6 The documented number of people settling in Europe until 2015 from high prevalence areas and the subsequent estimated number of carriers based on prevalence rates in their countries of origin is demonstrated in Table 1. [8][9][10][11][12][13][14] In the absence of an internationally accepted definition of migrant, in this publication the term will be used to define any individual who lives outside their country Conflict of interests: the authors declare no potential conflict of interests.…”

Section: Geographical Distribution In Europementioning

confidence: 99%

Hemoglobin Disorders in Europe: A Systematic Effort of Identifying and Addressing Unmet Needs and Challenges by the Thalassemia International Federation

Angastiniotis

Cannon

Antoniou

et al. 2021

Thalassemia Reports

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Hemoglobin disorders (thalassemia and sickle cell disease) are a group of hereditary anemias that today occur across the world. The recent population movement has led to a steady increase of carriers and patients in all countries of the European Union. Requiring complex monitoring and treatment and, as a consequence, well-organized and nationally coordinated, supported and funded services, these lifelong conditions are now visible to healthcare services in the EU. The purpose of this study is to provide an overview of the current situation pertaining to these disorders, as perceived by the patient/parent community that the Thalassemia International Federation (TIF) represents. The aim is to establish a comprehensive understanding of the situation and unmet needs faced by migrants with thalassemia. The implementation of activities by TIF in 2018-2020 to identify and address these challenges, paves the way to increased awareness, education and policy changes building on international expertise and knowledge that will enable the provision of state-of-art clinical management services thus guaranteeing an improved quality of life. A bird’s eye view of the prevalence of these disorders is presented contributing to the further understanding of challenges met by both patients and healthcare professionals in the receipt and provision of quality healthcare respectively.

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“…Due to the slave trade and contemporary immigration, sickle cell anemia has spread through other countries, like the United States, 3 France, 4 and the United Kingdom 5 . In Spain, the incidence of SCD was much lower: In 2018, there were a total of 826 patients registered in the National Hemoglobinopathies Registry in Spain (REPHem), with a prevalence of 1.34 cases per 100 000 inhabitants and an incidence of 0.03 SCD cases/1000 live births 6,7 . Nevertheless, in the last update from the REPHem database, the incidence of SCD had exponentially increased to 0.11 cases/1000 live births 8 …”

Section: Introductionmentioning

confidence: 99%

“…5 In Spain, the incidence of SCD was much lower: In 2018, there were a total of 826 patients registered in the National Hemoglobinopathies Registry in Spain (REPHem), with a prevalence of 1.34 cases per 100 000 inhabitants and an incidence of 0.03 SCD cases/1000 live births. 6,7 Nevertheless, in the last update from the REPHem database, the incidence of SCD had exponentially increased to 0.11 cases/1000 live births. 8 The natural history of SCD is highly variable, and nearly every organ of the body can be affected.…”

Section: Introductionmentioning

confidence: 99%

Matched sibling donor stem cell transplantation for sickle cell disease: Results from the Spanish group for bone marrow transplantation in children

Benítez‐Carabante

Beléndez

González‐Vicent

et al. 2021

European J of Haematology

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Objectives The prevalence of sickle cell disease (SCD) in Spain is markedly inferior compared with other European and Mediterranean countries. However, the diagnosis of new patients with SCD is expected to increase. In this multicenter retrospective study, we analyze the hematopoietic stem cell transplantation (HSCT) results obtained in Spain. Methods Forty‐five patients who underwent a matched sibling donor (MSD) HSCT between 1999 and 2018 were included. Primary endpoint was event‐free survival (EFS), and secondary endpoints included acute and chronic graft‐versus‐host disease (GvHD) and overall survival (OS). Results Bone marrow was the most frequent stem cell source (93.3%). Most patients received a conditioning regimen based on busulfan and cyclophosphamide (69%). Cumulative incidence of grade III‐IV acute GvHD and chronic GvHD was 6.8% (95% CI: 2.3%‐20.1%) and 5.4% (95% CI: 1.38%‐19.9%), respectively. EFS and overall survival (OS) at 3 years post‐HSCT were 89.4% (95% CI: 73.9%‐95.9%) and 92.1% (95% CI: 77.2%‐97.4%), respectively. All patients aged ≤ 5 presented 100% EFS and OS. Conclusions An early referral to HSCT centers should be proposed early in life, before severe complications occur. MSD HSCT should be considered a curative option for all patients aged ≤ 5 years and for older pediatric patients who present complications derived from the disease.

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Update of the Spanish registry of haemoglobinopathies in children and adults

Cited by 7 publications

References 22 publications

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

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

Hemoglobin Disorders in Europe: A Systematic Effort of Identifying and Addressing Unmet Needs and Challenges by the Thalassemia International Federation

Matched sibling donor stem cell transplantation for sickle cell disease: Results from the Spanish group for bone marrow transplantation in children

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