Increasing prevalence of thalassemia in America: Implications for primary care

Sayani, Farzana; Kwiatkowski, Janet L.

doi:10.3109/07853890.2015.1091942

Cited by 57 publications

(49 citation statements)

References 77 publications

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“…To date, the largest meta‐analysis of thalassemia mutation spectrum in China has been conducted by Lai et al (Sayani & Kwiatkowski, ). Most of the data are obtained from people who settled in the southern China.…”

Section: Resultsmentioning

confidence: 99%

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

Yang

Cui

Zhou

et al. 2019

Molec Gen & Gen Med

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Background Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but an increasing number of cases from northern China have been recently reported. Methods During 2012 to 2017, suspected thalassemia people were detected for common α‐ and β‐thalassemia mutations by gap‐Polymerase Chain Reaction (PCR) and reverse dot blot (RDB) analysis in Peking Union Medical College Hospital. One thousand and fifty‐nine people with thalassemia mutations were analyzed retrospectively. We picked mutated individuals who originally came from northern areas, and conducted telephone follow‐up survey in order to collect their ancestral information. Besides, we used “thalassemia”, “mutation”, and “Southeast Asian countries” as keywords to search the relevant studies in PubMed and Embase databases. Results All carriers included in our study were resided in northern China. Among them, 17.3% were native northerners and 82.7% were immigrants from southern China. Although substantial difference was found in α‐ and β‐thalassemia ratio and detailed spectrum of α‐ and β‐globin mutation spectrum between our data and data obtained from a previous meta‐analysis literature focused on southern China, the most common gene mutations were the same. Similar β‐thalassemia mutation spectrum was found among Thai, Malaysian Chinese, and Guangdong people, however, no other similarities in gene profile were found between Chinese and other ethnic groups in Southeast Asia. Conclusion Chinese people in different areas had similar gene mutation, whereas they had significantly different mutation spectrums from other ethnic groups in Southeast Asia.

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Section: Resultsmentioning

confidence: 99%

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

Yang

Cui

Zhou

et al. 2019

Molec Gen & Gen Med

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“…With industrialization over the past 20 years and the availability of jobs in the developed areas of mainland China, many people from the southwest region have migrated to cities in the north. Indeed, population mobility and migration have resulted in a significantly increasing thalassemia prevalence on other continents, such as in Europe and North America 30, 31 . However, due to the lack of regional data in provinces in northern China with large population mobility, changes in epidemiological characteristics of thalassemia in those provinces remain unclear.…”

Section: Discussionmentioning

confidence: 99%

The prevalence of thalassemia in mainland China: evidence from epidemiological surveys

Lai

Huang

et al. 2017

Sci Rep

140

122

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Comprehensive data regarding the epidemiology and prevalence of thalassemia in mainland China are lacking. To assess the prevalence of thalassemia, we performed a meta-analysis including 16 articles published from 1981 to 2015. The overall prevalence of α-thalassemia, β-thalassemia and α + β-thalassemia was 7.88%, 2.21% and 0.48%, respectively. Trends in thalassemia prevalence in mainland China were not steady; a prevalence map based on a geographic information system (GIS) showed that the geographic distribution of thalassemia was highest in the south of China and decreased from south to north. Additionally, the most common α- and β-globin gene mutation was --SEA and CD41/42, respectively. The current study provides valuable information regarding epidemiology and intervention and supports the planning, implementation and management of prevention programmes for public health.

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“…Iron overload is a major source of morbidity and mortality in both transfusion-dependent and non-dependent thalassaemia patients necessitating iron chelation therapy. Iron overload contributes to increased risk of cirrhosis, heart failure, and endocrinopathies, while ineffective erythropoiesis and haemolysis contribute to multiple complications including splenomegaly, extramedullary haematopoiesis, pulmonary hypertension, and thrombosis [11]. Haemolysis is a common feature in patients with β-TM.…”

Section: Discussionmentioning

confidence: 99%

Expression of CD55, CD59, and CD35 on red blood cells of β-thalassaemia patients

Kurtoǧllu

Koçtekin

Kurtoğlu³

et al. 2017

cejoi

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Aim of the studyβ-thalassaemia (β-Thal) is considered a severe, progressive haemolytic anaemia, which needs regular blood transfusions for life expectancy. Complement-mediated erythrocyte destruction can cause both intravascular and extravascular haemolysis. Complement regulatory proteins protect cells from such effects of the complement system. We aimed to perform quantitative analysis of membrane-bound complement regulators, CD55 (decay accelerating factor – DAF), CD35 (complement receptor type 1 – CR1), and CD59 (membrane attack complex inhibitory factor – MACIF) on peripheral red blood cells by flow cytometry.Material and methodsThe present study was carried out on 47 β-thalassemia major (β-TM) patients, 20 β-thalassaemia intermedia (β-TI) patients, and 17 healthy volunteers as control subjects.ResultsCD55 levels of β-TM patients (58.64 ±17.06%) were significantly decreased compared to β-TI patients (83.34 ±13.82%) and healthy controls (88.57 ±11.69%) (p < 0.01). CD59 levels of β-TM patients were not significantly different than β-TI patients and controls, but CD35 levels were significantly lower in the β-TM patients (3.56 ±4.87%) and β-TI patients (12.48 ±9.19%) than in the control group (39.98 ±15.01%) (p < 0.01).ConclusionsLow levels of CD55 and CD35 in thalassaemia major patients indicates a role for them in the aetiopathogenesis of haemolysis in this disease, and also this defect in a complement system may be responsible for the chronic complications seen in these patients.

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Increasing prevalence of thalassemia in America: Implications for primary care

Cited by 57 publications

References 77 publications

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

The prevalence of thalassemia in mainland China: evidence from epidemiological surveys

Expression of CD55, CD59, and CD35 on red blood cells of β-thalassaemia patients

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