Known and new hemoglobin A2 variants in Thailand and implication for β-thalassemia screening

Panyasai, Sitthichai; Fucharoen, Goonnapa; Fucharoen, Supan

doi:10.1016/j.cca.2014.09.003

Cited by 16 publications

(13 citation statements)

References 21 publications

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“…Furthermore, HbA2 analysis plays an important role in distinguishing IDA and β-thalassemia carriers [16], for example, anaemia with HbA2 > 4% indicates a β-thalassemia carrier with a mutation at IVS1nt5 (c92 + 5G > C). The increase in HbA2 becomes an important parameter for thalassemia carrier identification.…”

Section: Discussionmentioning

confidence: 99%

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia

et al. 2019

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s Background Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether blood count metrics, such as the Shine & Lal index (SLI; MCV*MCV*MCH/100), might serve as a predictor to screen thalassemia carriers in a limited resource area where molecular methods are not readily available. Methods During a family gathering of thalassemia patients, family members (n196) underwent a complete blood count test. Those with MCV < 80 fL and/or MCH < 27 pg and/or SLI < 1530 were further examined for Hb analysis. Only samples with HbA2 fraction > 4% or with a peak in the HbE fraction were sequenced to confirm β-globin gene mutations. Results Of 196 family members, 117 (59.6%) had low MCV and/or low MCH and/or low SLI. The HbE fraction (mean 24.06% ± 0.95, range 22.4–26.5) was found in 27 (13.7%) cases, and all had a mutation at codon (CD)26 (c.79G > A). The mean HbA 2 fraction in these samples was 3.18% ± 0.62 (range 2.6–3.8). For samples with HbA2 > 4% (n30; 15.3%), all had mutations at IVS1nt5 (c.92 + 5 G > C; n28), CD8/9 (c.27_28insG; n1) and CD19 (c.59A > G; n1). The mean HbA 2 fraction with a mutation at IVS1nt5 (c.92 + 5 G > C) was 4.65% ± 0.77 (range 4.0–5.6). Interestingly, anaemia was only present in 25 and 57% of β-thalassemia carriers with mutations at CD26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), respectively. Conclusions The Shine & Lal index is helpful in the early screening of β-thalassemia carriers, since this index confirms mutations at CD-26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), which are both common mutations in Bandung, Indonesia. Further DNA analysis is a topic of interest to map variants in globin genes and their distribution across populations.

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Section: Discussionmentioning

confidence: 99%

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia

et al. 2019

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“…The levels of Hb A 2 and Hb A 2 Melbourne were found to be 2.53% and 2.76%, respectively. In order not to misidentify this case with β‐thalassemia trait, the levels of Hb A 2 and Hb A 2 Melbourne must be combined so that the total Hb A 2 level became 5.29%, which is within the diagnostic range for a β‐thalassemia carrier .…”

Section: Resultsmentioning

confidence: 99%

Diagnosis of common hemoglobinopathies among South East Asian population using capillary isoelectric focusing system

Srivorakun

Fucharoen

Sanchaisuriya

et al. 2016

Int J Lab Hematology

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“…The d-thalassemia itself has no clinical implication. However, d-gene mutations may have serious consequences for the diagnosis of b-thalassemia trait in special ethnic groups like Chinese [7,8]. b-thalassemia heterozygotes usually have microcytosis combined with elevated levels of Hb A 2 .…”

Section: Discussionmentioning

confidence: 99%

Heterozygous β‐thalassemia with complete absence of hemoglobin A₂ in a Chinese adult

Yan

Xie

et al. 2015

Int J Lab Hematology

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Known and new hemoglobin A2 variants in Thailand and implication for β-thalassemia screening

Cited by 16 publications

References 21 publications

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia

Diagnosis of common hemoglobinopathies among South East Asian population using capillary isoelectric focusing system

Heterozygous β‐thalassemia with complete absence of hemoglobin A₂ in a Chinese adult

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Known and new hemoglobin A2 variants in Thailand and implication for β-thalassemia screening

Cited by 16 publications

References 21 publications

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia

Diagnosis of common hemoglobinopathies among South East Asian population using capillary isoelectric focusing system

Heterozygous β‐thalassemia with complete absence of hemoglobin A2 in a Chinese adult

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Heterozygous β‐thalassemia with complete absence of hemoglobin A₂ in a Chinese adult