Umbilical Cord Blood Screening for the Detection of Common Deletional Mutations of α-Thalassemia in Bangladesh

Anwar, Saeed; Mourosi, Jarin Taslem; Hasan, Md. Kamrul; Miah, Faruque

doi:10.1080/03630269.2020.1784755

Cited by 5 publications

(5 citation statements)

References 52 publications

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“…In our study population, we found the -a 3.7 deletion to be the most common. This finding is similar to Anwar et al (2020), which included data from the Sylhet, Kishoreganj, and Mymensingh districts, although they also reported the Southeast Asia deletion [ 15 ]. Silent carriers of alpha thalassemia, in which only one alpha globin chain is not produced, are often asymptomatic and a lower risk of anemia is expected.…”

Section: Discussionsupporting

confidence: 88%

“…Interestingly, we did not identify any cases of the Southeast Asia deletion (- SEA ), a common form of alpha thalassemia which has been reported in Bangladesh and other countries in the region [ 15 , 27 , 28 ]. In our study population, we found the -a 3.7 deletion to be the most common.…”

Section: Discussionmentioning

confidence: 80%

“…There is scarce literature on alpha thalassemia levels in Bangladesh to compare to our alpha thalassemia prevalence among women and children in the FAARM trial population, and existing studies report a range of estimates. One study, published in 2020, assessed alpha thalassemia in 413 newborns in three hospitals in three divisions of Bangladesh, including Sylhet, and found that 16% had at least one alpha thalassemia deletion [ 15 ]. This estimate is much higher than in our study (7% and 5%).…”

Section: Discussionmentioning

confidence: 99%

“…Most reports have come from clinic-based samples which are not representative of the population and most assess only beta thalassemia and hemoglobin E [ 12 , 13 ], which can be diagnosed by hemoglobin electrophoresis [ 14 ]. More comprehensive analyses to detect deletions or triplications in the alpha globin gene have rarely been reported in the literature [ 15 ]. While people with triplicated alpha globin genes do not present with symptoms, knowing the prevalence is important because, when coinherited with abnormalities on the beta globin chain, this can lead to a more severe condition due to a greater imbalance between alpha and beta globin chains [ 16 ].…”

Section: Introductionmentioning

confidence: 99%

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Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh

Wendt

Brintrup

Waid

et al. 2023

Orphanet J Rare Dis

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Background Inherited blood disorders affect 7% of the population worldwide, with higher prevalences in countries in the “thalassemia belt,” which includes Bangladesh. Clinical management options for severely affected individuals are expensive; thus, targeted government policies are needed to support prevention and treatment programs. In Bangladesh, there is a lack of data, in particular community-based estimates, to determine population prevalence. This study aims to estimate the prevalence of a wide range of hemoglobinopathies and their associations with anemia in a community-based sample of women and young children in rural Sylhet, Bangladesh. Methods Capillary blood samples from 900 reproductive-aged women and 395 children (aged 6–37 months) participating in the Food and Agricultural Approaches to Reducing Malnutrition (FAARM) trial in two sub-districts of Habiganj, Sylhet Division, Bangladesh were analyzed for alpha thalassemia, beta thalassemia, and other hemoglobinopathies. We examined the association of each inherited blood disorder with hemoglobin concentration and anemia using linear and logistic regression. Results We identified at least one inherited blood disorder in 11% of women and 10% of children. Alpha thalassemia was most prevalent, identified in 7% of women and 5% of children, followed by beta thalassemia and hemoglobin E in 2–3%. We also identified cases of hemoglobin S and hemoglobin D in this population. Having any of the identified inherited blood disorders was associated with lower hemoglobin values among non-pregnant women, largely driven by alpha and beta thalassemia. Pregnant women with beta thalassemia were also more likely to have lower hemoglobin concentrations. Among children, we found weak evidence for a relationship between hemoglobinopathy and lower hemoglobin concentrations. Conclusions We found a high prevalence of alpha thalassemia among both women and children in rural Sylhet, Bangladesh–higher than all other identified hemoglobinopathies combined. Community-based estimates of alpha thalassemia prevalence in Bangladesh are scarce, yet our findings suggest that alpha thalassemia may comprise the majority of inherited blood disorders in some regions of the country. We recommend that future research on inherited blood disorders in Bangladesh include estimates of alpha thalassemia in their reporting for public health awareness and to facilitate couples counseling.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh

Wendt

Brintrup

Waid

et al. 2023

Orphanet J Rare Dis

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“…Other NBS studies on Bangladeshi newborns have been reported with particular emphasis on local incidences of metabolic and other conditions detectable by NBS: a study of LC-MS/MS techniques, establishing cutoff values for various amino acids and acylcarnitines, to assist government authorities in installing and establishing NBS [ 435 ]; a Canadian collaboration study of CH and HGB in Matlab, Bangladesh to determine incidences and to validate the use of an offsite remote laboratory [ 436 ]; a report on the ease of use of DBSs for remote laboratory testing as part of NBS in LMICs [ 165 ]; a study to assess the prevalence of α-thalassemia and provide a model for NBS [ 437 ]; and a study to demonstrate the feasibility of NBS for SCD and β-thalassemia [ 438 ]. Since NBS for conditions like SCD, thalassemias and other genetic conditions is aided by population education and family counseling when cases are detected, it is important to consider the availability of trained genetic counselors.…”

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh

et al. 2023

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Umbilical Cord Blood Screening for the Detection of Common Deletional Mutations of α-Thalassemia in Bangladesh

Cited by 5 publications

References 52 publications

Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh

Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh

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