New trend in the epidemiology of thalassaemia

Li, Chi Kong

doi:10.1016/j.bpobgyn.2016.10.013

Cited by 82 publications

(61 citation statements)

References 64 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A prevention program would be useful to address this problem, but such a program will require thalassemia data representing the spectrum of this disease among the Lao population. The burden of thalassemias and hemoglobinopathies varies depending on the population and the ethnicity of individuals . Molecular epidemiological characterization regarding the frequency and distribution of thalassemias is important for designing appropriate prevention strategies.…”

Section: Discussionmentioning

confidence: 99%

Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People’s Democratic Republic

Phanmany

Chanprasert

Munkongdee

et al. 2019

Int J Lab Hematology

View full text Add to dashboard Cite

Introduction Thalassemias and hemoglobinopathies are the most prevalent inherited anemias detected in South East Asians. These disorders represent not only a clinical health problem but also a socioeconomic problem for this region. Regarding the prevention and control of thalassemias and hemoglobinopathies in the Lao PDR, screening and diagnostic strategies should be strongly considered. The knowledge about the prevalence and molecular genotyping of thalassemias and hemoglobinopathies among the Lao Loum group, which includes the majority of Lao people, is now limited, making the prevention and control of thalassemias difficult. Methods This study aimed to determine the prevalence of thalassemia among Lao Loum subjects of reproductive age. Multiplex gap PCR and direct sequencing were used to investigate the mutations of α‐globin and β‐globin genes. Results Thalassemias and hemoglobinopathies were detected in 154 of 354 (43.50%) patients, and 22 different genotypes were identified in this cohort. Remarkably, high frequencies of hemoglobin E, α0 –thalassemia (‐‐SEA), and α+ –thalassemia (‐α3.7) were noted. A variety of hematologic features was observed, including co‐inheritance of heterozygous HbE and heterozygous α‐thalassemia, which was associated with significantly lower levels of MCV and MCH values than those observed in typical HbE heterozygotes. Female participants who were heterozygous for β0 or co‐inheritance of heterozygous βE with heterozygous α‐thalassemia exhibited mild anemia. Conclusion Our data show that thalassemias and hemoglobinopathies have become health problems imposing a serious burden in the Lao PDR. Prevention programs aimed at decreasing the incidence of severe thalassemia diseases should be designed and initiated.

show abstract

Section: Discussionmentioning

confidence: 99%

Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People’s Democratic Republic

Phanmany

Chanprasert

Munkongdee

et al. 2019

Int J Lab Hematology

View full text Add to dashboard Cite

show abstract

“…This information would be valuable for patient care and control of the hemoglobin disorders both in the country as well as several other countries where there is a sizeable number of immigrants from India. Li 2017 has also described this new trend in the epidemiology of thalassemia in countries like North America, Central and North Europe due to migrants from countries with a high prevalence of thalassemias …”

Section: Discussionmentioning

confidence: 99%

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

Nadkarni

Gorakshakar

Sawant

et al. 2018

Int J Lab Hematology

View full text Add to dashboard Cite

Introduction The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years. Materials and Methods Screening for hemoglobinopathies was done using HPLC and cellulose acetate electrophoresis. Molecular characterization was done using Covalent Reverse Dot Blot Hybridization (CRDB), Amplification Refractory Mutation System (ARMS), GAP PCR and direct DNA sequencing. Results The study includes 31 075 individuals who were referred for diagnosis of hemoglobinopathies and prenatal diagnosis. Of these 14 423 individuals showed various hemoglobin abnormalities. Beta genotyping in 5615 individuals showed the presence of 49 β thalassemia mutations. 143 β thalassemia heterozygotes had normal or borderline HbA2 levels. We identified three δ gene mutations (HbA2 Pellendri, HbA2 St.George, HbA2 Saurashtra) in β thalassemia heterozygotes leading to normal HbA2 levels. The commonest defects among the raised Hb F determinants were Gγ(Αγδβ)0 Indian inversion and the HPFH‐3 Indian deletion. A total of 312 individuals showed the presence of α thalassemia, of which 12.0% had a single α gene deletion (−α/αα). HbH disease was identified in 29 cases with 10 different genotypes. Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype. Seven unusual α chain variants and eight uncommon β chain variants were identified. Conclusion The repertoire of molecular defects seen in the different globin genes will be valuable for management and control of these disorders both in India as well as in other countries where there is a huge influx of migrant populations from India.

show abstract

“…However, in recent decades, the mobility and migration of people to northern China has rapidly increased, and thalassemia non‐prevalent areas are now facing the ‘new’ disorder. During the past two decades, China and Southeast Asian countries have seen rapid economic development, and more families are now emigrating to European and American countries for studying, business, family integration, or seeking better standards of living 4 …”

Section: Epidemiologymentioning

confidence: 99%

Epidemiology and treatment of beta thalassemia major in China

Wang

2019

Pediatric Investigation

View full text Add to dashboard Cite

Thalassemia, classified as the main types α‐ and β‐thalassemia, is a single gene disorder resulting from globin chain synthesis impairment through the mutation or deletion of globin genes. The incidence of thalassemia is high worldwide, with high associated mortality. Therefore, treatment is important to improve patient outcomes. This paper reviews the current status of β‐thalassemia major in China, including its epidemiology and treatment.

show abstract

New trend in the epidemiology of thalassaemia

Cited by 82 publications

References 64 publications

Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People’s Democratic Republic

Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People’s Democratic Republic

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

Epidemiology and treatment of beta thalassemia major in China

Contact Info

Product

Resources

About