A large cohort of β+-thalassemia in Thailand: Molecular, hematological and diagnostic considerations

Yamsri, Supawadee; Singha, Kritsada; Prajantasen, Thanet; Taweenan, Wachiraporn; Fucharoen, Goonnapa; Sanchaisuriya, Kanokwan; Fucharoen, Supan

doi:10.1016/j.bcmd.2014.11.008

Cited by 30 publications

(25 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is therefore useful to look for α‐thalassemia in all cases of β 0 ‐thalassemia with normal MCV. These results indirectly confirm our previous finding that β + ‐thalassemia carriers have higher MCV than β 0 ‐thalassemia carriers and some may have normal MCV and MCH . Therefore, they may escape at the thalassemia screening unless Hb or DNA analysis is performed (Figure ).…”

Section: Discussionsupporting

confidence: 89%

“…These results indirectly confirm our previous finding that β + -thalassemia carriers have higher MCV than β 0 -thalassemia carriers and some may have normal MCV and MCH. 10,23 Therefore, they may escape at the thalassemia screening unless Hb or DNA analysis is performed ( Figure 2). It is possible in Thailand that the β-thalassemia trait with normal hematological parameters may be even more prevalent than that observed here because based on the screening protocol these subjects are readily excluded for further analysis.…”

Section: Distributions Of MCV and Mch Values In These Subjects With β-mentioning

confidence: 99%

See 1 more Smart Citation

Erythrocyte indices in a large cohort of β‐thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia

Singha

Taweenan

Fucharoen

et al. 2019

Int J Lab Hematology

Self Cite

View full text Add to dashboard Cite

Introduction Most β‐thalassemia carriers have hypochromic microcytosis with mean corpuscular volume (MCV) < 80 fL and mean corpuscular hemoglobin (MCH) < 27 pg. These can be variable due to β‐thalassemia mutations, genetic interaction between thalassemic genes, and blood cell counters. We have examined whether these indices are effective in screening of β‐thalassemia in Thailand where thalassemia is prevalence and heterogeneous. Methods Retrospective data were reviewed on 11 443 Thai subjects encountered from August 2014 to August 2017. Subjects with heterozygous β‐thalassemia based on Hb and DNA analyses were recruited along with MCV and MCH values and analyzed. Results Among the 11 443 subjects reviewed, 1425 were β‐thalassemia carriers. Data were available on 1214 subjects for MCV and 965 subjects for MCH. DNA analysis identified 20 different β0‐thalassemia mutations in 874 (72.0%) cases and 6 β+‐thalassemia mutations in 340 (28.0%) subjects. Of these 1214 carriers, 26 (2.1%) had MCV ≥ 80 fL; 6 (23.1%) carried β0‐thalassemia, and the remaining 20 (76.9%) had β+‐thalassemia. In contrast for those having MCH values, only 4 of 965 (0.4%) had MCH ≥ 27 pg. DNA analysis identified both β0‐thalassemia and β+‐thalassemia mutations. Conclusions Using MCV alone for the screening of β‐thalassemia may pose a significant number of false negative although three‐quarter of them are carriers of mild β+‐thalassemia. MCH with approximately five times more sensitive is a better screening marker. Using a combined MCV and MCH is highly recommended, especially in an area with high prevalence and heterogeneity of thalassemia like Thailand.

show abstract

Section: Discussionsupporting

confidence: 89%

Section: Distributions Of MCV and Mch Values In These Subjects With β-mentioning

confidence: 99%

Erythrocyte indices in a large cohort of β‐thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia

Singha

Taweenan

Fucharoen

et al. 2019

Int J Lab Hematology

Self Cite

View full text Add to dashboard Cite

show abstract

“…In this study, the values of Hb, MCV and MHC decreased and RBC increased in the order of β E , β + -and β 0thalassemia group. A previously study in Thai people also reported that β + -thalassemia was associated with relatively milder phenotype than β 0 -thalassemia according to hematological characteristics [16], which was consistent with our results. It's worth noting that β E -thalassemia manifested borderline RBC, Hb, MCV and MCH values which were nearly close to normal values.…”

Section: Discussionsupporting

confidence: 93%

Genotype Spectrum and Hematological Features of β–Thalassemia with or without Different Forms of α-Thalassemia in Shenzhen

Luo

Xiong²,

Chen

et al. 2020

Preprint

View full text Add to dashboard Cite

Background: The effects of different forms of α–thalassemia on β-thalassemia phenotype has not been clearly described thus far. Methods: Genotype spectrum and hematological features of 873 female diagnosed as β-thalassemia carriers with or without different forms of α-thalassemia was retrospectively analyzed. Results: Thirteen kinds of genotypes were found in the 755 β-thalassemia carriers, including four kinds of β+-thalassemia, eight kinds of β0 -thalassemia and one kind of βE-thalassemia. The values of hemoglobin (Hb), mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) decreased and red blood cell (RBC) increased in the order of βE, β+- and β0 group (p＜0.05). Nine genotypes were determined from the 43 carriers with concurrent α- and β+-thalassemia and seventeen genotypes were determined from the 75 carriers with concurrent α- and β0 -thalassemia. Significant higher Hb, MCV and MCH values were noted in β+–thalassemia or β0–thalassemia co-inherited with α+-thalassemia or α0-thalassemia as compared to the only β+–thalassemia or β0–thalassemia heterozygosity with normal alpha globin gene (p＜0.05). Moreover, the values of Hb, MCV and MCH increased much more when β0–thalassemia co-inheritance of α0-thalassemia than that of α+-thalassemia (p＜0.05). Conclusion: The β-thalassemia presented diverse molecular heterogeneity and hypochromic microcytosis at various degrees. Co-inherited with α–thalassemia could alleviate phenotype of anemic in β+- or β0-thalassemia, and β0-thalassemia demonstrated milder phenotype with two deletion or mutation in α-globin gene than one.

show abstract

“…These mutations were very rare and each of those was found on a single allele ( Table 1). The −86 [C > G] mutation had also low frequency in Thailand and China [47,48]. Furthermore, −31 [A > G] mutation was just reported in Thai and Japanese populations [49].…”

Section: The Order and Frequency Of The Dominant Common Mutations Ivsmentioning

confidence: 97%

Geographical distribution of β-globin gene mutations in Syria

et al. 2018

View full text Add to dashboard Cite

show abstract

A large cohort of β+-thalassemia in Thailand: Molecular, hematological and diagnostic considerations

Cited by 30 publications

References 30 publications

Erythrocyte indices in a large cohort of β‐thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia

Erythrocyte indices in a large cohort of β‐thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia

Genotype Spectrum and Hematological Features of β–Thalassemia with or without Different Forms of α-Thalassemia in Shenzhen

Geographical distribution of β-globin gene mutations in Syria

Contact Info

Product

Resources

About