Changing patterns in the epidemiology of β‐thalassemia

Kattamis, Antonis; Forni, Gian Luca; Aydınok, Yeşim; Viprakasit, Vip

doi:10.1111/ejh.13512

Cited by 177 publications

(173 citation statements)

References 79 publications

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“…To date, there is no effective treatment for patients with thalassemia major, except bone marrow transplantation ( 2 ). Thalassemia major has caused a huge burden on society and seriously affected the quality of life of people in developing countries ( 3 , 5 ). Therefore, it is critical to implement prenatal diagnosis and genetic counseling to prevent the birth of children with thalassemia major on the basis of grasping the molecular epidemiological characteristics of the frequency and distribution of thalassemia.…”

Section: Introductionmentioning

confidence: 99%

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

He¹,

Li²,

Shang³

et al. 2021

Front. Pediatr.

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Background: Thalassemia is one of the most common genetic diseases in southern China. Howerver, population in different regions or different population has their own spectrums of thalassemia. To investigate the prevalence and spectrum features of thalassemia among children in Guangxi. Hematology and genetic analysis were performed on 71,459 children aged 1–10 years in various regions of Guangxi.Results: A total of 11,821 children were diagnoses with thalassemia including 7,615 (10.66%) subjects of α-thalassemia, 3,507 (4.90%) subjects of β-thalassemia, and 699 (0.98%) cases with both α- and β-thalassemia. Nine α-thalassemia mutations and 30 genotypes were identified among the α-thalassemia children. The - -SEA and - -SEA/αα were the most frequent mutation and genotype, respectively. One α-thalassemia fusion gene and a rare 2.4 kb deletion both causing α+-thalassemia were identified, respectively. Thirteen β-thalassemia mutations and 31 genotypes were characterized among the β-thalassemia children, with the most common mutation CD41-42 (-CTTT) accounting for 46.05% of the β-mutations. Two rare mutations IVS-II-5 (G>C), and IVS-I-2 (T>C) were firstly identified. Furthermore, 92 genotypes were identified among 699 children with both α- and β-thalassemia.Conclusions: Our findings highlight the great heterogeneity and the extensive spectrum of thalassemia among children in Guangxi, which provide an available reference for prevention of thalassemia in this area.

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Section: Introductionmentioning

confidence: 99%

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

He¹,

Li²,

Shang³

et al. 2021

Front. Pediatr.

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“…On the other hand, nearly four million Syrian immigrants registered in Turkey live in the cities like Sanliurfa bordering Syria. When compared to previous epidemiological studies, the increase in the number of patients is remarkable [12,[20][21][22][23]. It may be stated that the number of immigrant patients in this region might have contributed to this finding.…”

Section: Discussionmentioning

confidence: 59%

Beta-thalassemia mutation types and the relationship with the demographic factors in Sanliurfa, Turkey

Akıncı

Demir

Tunçez

et al. 2021

Family Practice and Palliative Care

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Introduction: Beta-thalassemia is an autosomal recessive disease that occurs as a result of a disorder in the (β-globin chains synthesis), and the gold standard method for diagnosis is genetic mutation analysis. It is important to know the distribution of mutations according to regions and races. The aim of this study is to document the mutations in the beta-globin gene of beta-thalassemia major and intermedia patients who were followed and treated in Sanliurfa province, and to examine the relationships between these mutations by defining them according to gender, nationality, consanguineous marriage, history of disease in siblings and blood type. Methods: The files of 272 patients diagnosed with beta-thalassemia major and intermedia followed up in the Pediatric Hematology-Oncology outpatient clinic of Sanliurfa Training and Research Hospital between August 2016 and August 2017 were retrospectively reviewed and mutation analyzes were documented. Coding exons and exon-intron junction regions of beta globin-HBB gene were amplified by PCR method and then DNA sequencing was performed. Gender, nationality, consanguineous marriage, sibling history and blood type information were recorded. Results: Out of 272 patients, 94.1% were thalassemia major and the others were thalassemia intermedia. Approximately one third of the patients (30.1%) were foreign nationals. A total of 27 different mutations in the beta-globin gene were detected. The most common mutation is IVS-I-110 c.93-21 (G> A) (23.1%), which is followed by IVS-I-1 c.92 + 1 (G> A) (15.8%) and Codon 39 c.118 (C> T) (11.5%). One hundred and forty-two individuals (52.2%) had no sibling history, while 103 (37.9%) had one sibling and 27 (9.9%) had two siblings with thalassemia disorder. First-degree, second degree and third degree consanguineous marriages were present in 42.6% (n = 116), 8.1% (n = 22), 11% (n = 30) of parents, respectively. Conclusions: Beta-thalassemia disease is a common hematological condition in Sanliurfa. Approximately one-third of the patients who apply are foreign nationals. Correct identification of beta-globin gene mutations will guide genetic counseling and preventing prenatal disease. This data can contribute to the national thalassemia prevention program in Turkey.

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“…β-thalassemia has emerged alongside occurrences of malaria and is historically endemic to the Mediterranean, the Middle East, and Southeast Asia; population migration patterns (historical and modern) have increasingly made this a global disease [5][6][7][8]. Around 68,000 children are born annually with β-thalassemia, the vast majority in resourceconstrained countries; an estimated 1.5% of the global population are carriers of the disease [9,10].…”

Section: Introductionmentioning

confidence: 99%

Luspatercept for β-thalassemia: beyond red blood cell transfusions

Taher

Cappellini

2021

Expert Opinion on Biological Therapy

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Introduction: Red blood cell transfusions and iron chelation therapy are the cornerstone of treatment for β-thalassemia, with allogeneic hematopoietic stem cell transplantation and gene therapy offering further disease-management options for eligible patients. With up to 90% of severe cases of βthalassemia occurring in resource-constrained countries, and estimates indicating that 22,500 deaths occur annually as a direct consequence of undertransfusion, provision of adequate treatment remains a major issue. Areas covered: In this review, we provide an overview of luspatercept, a first-in-class erythroid maturation agent, and present the available clinical data related to the treatment of β-thalassemia. Expert opinion: The recent approval of luspatercept offers a new, long-term therapeutic option for adult patients with transfusion-dependent β-thalassemia to reduce red blood cell transfusion burden, anemia, and iron overload.

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Changing patterns in the epidemiology of β‐thalassemia

Cited by 177 publications

References 79 publications

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

Beta-thalassemia mutation types and the relationship with the demographic factors in Sanliurfa, Turkey

Luspatercept for β-thalassemia: beyond red blood cell transfusions

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