Mutation spectrum of β-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia

Maskoen, Ani Melani; Rahayu, Nurul Setia; Reniarti, Lelani; Susanah, Susi; Laksono, Bremmy; Fauziah, Prima Nanda; Zada, Almira; Hidayat, Dadang S

doi:10.14715/cmb/2017.63.12.6

Cited by 7 publications

(10 citation statements)

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“…Even though we only had eight parameters of complete blood count examination in our study, the Shine & Lal index < 1530 could predict all β-thalassemia carriers with mutations at c92 + 5G > C and c.79G > A. Both mutations are regarded as the most prevalent mutations among populations in West Java, Indonesia [10]. Interestingly, anaemia is only prevalent in 57.1 and 25.9% of β-thalassemia carrier IVS1nt5 (c92 + 5G > C) and HbE (c.79G > A) variants, respectively, indicating that most individuals have normal Hb or are non-anaemic, though they have low SLI.…”

Section: Discussionmentioning

confidence: 99%

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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%

“…The PCR band was then visualized in 2% agarose gel, running at 50 V for 30 min before further sequencing (First Base, Malaysia). The Hb fractions (HbA2, HbA and HbE) were compared between groups of common β-globin mutations (c.79G > A vs. c92 + 5G > C) as previously described [10]. …”

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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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“…In the province of West Java, the homozygous and heterozygous forms of IVS1nt5 are the most frequent mutations, with homozygous IVS1nt5 (49.25%) and heterozygous IVS1nt5/HbE (8.89%) being the two most prevalent, as described in a previous study. (13) Patients with thalassemia have chronic anemia, and therefore require repeated transfusions. The frequency of transfusion in homozygous IVS1nt5 is higher compared to that in heterozygous IVS1nt5/HbE (p=0.019).…”

Section: Discussionmentioning

confidence: 99%

“…In this study, we have compared homozygous IVS1nt5 and heterozygous IVS1nt5/HbE mutations of the β-globin gene, as these were prevalent in our thalassemia patients from Bandung, Indonesia. (13)…”

Section: •-mentioning

confidence: 99%

“…The β-thalassemia patients were clinically diagnosed from the clinical history and the regular blood transfusions, and from laboratory tests, as well as deoxyribonucleic acid (DNA) screening, as described in a previous study. (13) Total sampling was performed, thus all β-thalassemia patients with DNA mutation data in the clinic were asked to participate in this study upon written consent of their parents, since these patients were considered as a vulnerable group. Patients with heart failure, hepatitis, renal failure, nephrotic syndrome, and diabetes mellitus were excluded.…”

Section: Research Subjectsmentioning

confidence: 99%

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High ferritin in homozygous and heterozygous β-thalassemia tends to decrease oxidative stress levels

et al. 2018

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Background Ineffective erythropoiesis and multiple blood transfusions may cause iron overload, leading to high level of ferritin in â-thalassemia patients. Iron has the ability to catalyze the production of reactive oxygen species (ROS), which can be prevented by an adequate activity of superoxide dismutase (SOD) and glutathione peroxidase (GPx). The aim of this study was to explore the association between high ferritin levels and oxidative stress among â-thalassemia patients by measuring SOD and GPx levels. Methods This was a cross sectional study among â-thalassemia major patients. Ferritin, SOD, and GPx were measured and compared between â-thalassemia patients with homozygous IVS1nt5 and heterozygous IVS1nt5/HbE mutations, which were the most prevalent mutations found in our previous study. The Spearman correlation test was used to analyze the data. Results The ferritin levels in all â-thalassemia major patients were very high (range: 791-12,340 ìg/L). However, no significant differences were observed (p=0.318) between homozygous IVS1nt5 (n=45) compared to heterozygous IVS1nt5/HbE (n=13). The oxidative stress markers SOD and GPx were not significantly different between homozygous IVS1nt5 and heterozygous IVS1nt5/HbE (p=0.450 and p=0.323, respectively). The correlations between ferritin and SOD and GPx oxidative stress levels were not significant in both homozygous IVS1nt5 and heterozygous IVS1nt5/HbE mutations. Conclusion High ferritin levels in â-thalassemia patients tend to decrease the GPx level in all thalassemia patients and SOD level in half of the patients, indicating that GPx and SOD may play a role in the occurrence of oxidative stress among thalassemia patients. The mechanism of oxidative stress in thalassemia needs to be further explored.

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Anemia Prevalence after Iron Supplementation among Pregnant Women in Midwifes Practice of Primary Health Care Facilities in Eastern Indonesia

Seu

Mose

Panigoro

et al. 2019

Anemia

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Background Iron deficiency anemia (IDA) in pregnant women is common, and iron supplementation is given during pregnancy to reduce birth complication. This study aimed to explore the prevalence of anemia and type of anemia after iron supplementation among pregnant women in the eastern part of Indonesia. Methods A cross-sectional study design was conducted between January and March 2019 in three Primary Health Care (PHC) facilities at Kupang, West Timor. After consent, pregnant women who had taken their iron supplementation for at least 3 months were asked for iron pills intake by using a self-designed questionnaire and by counting the pills leftover. Complete blood count examination was performed, and the type of anemia was assessed using Shine and Lal index (SLI; MCV ∗ MCV ∗ MCH/100) to determine whether anemia was due to iron deficiency or β-thalassemia trait (β-TT). In a subset of iron tablets distributed in the PHCs, Fe-concentration was measured. Results Of 102 pregnant women included, only 25.5% had taken the pills with a pill count of >80%. Interestingly, Fe-concentration in the pills from three different PHC facilities varied between 75% and 100%. After iron supplementation, however, anemia was detected in 34.3%, and based on SLI, 14.7% was suspected because of iron deficiency and 19.6% was suspective of β-TT. Of note, nonanemic pregnant women (17.6%) had also low SLI, suggesting β-TT or other hemoglobinopathies. Conclusion Assessment of Shine and Lal index as the first step to screen the type of anemia in pregnant women from a limited area is of potential value, especially because Indonesia is located in the thalassemia belt area. An integrative approach and counseling among pregnant women with β-TT and their partners will increase thalassemia awareness and optimal birth management.

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Mutation spectrum of β-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia

Cited by 7 publications

References 5 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

High ferritin in homozygous and heterozygous β-thalassemia tends to decrease oxidative stress levels

Anemia Prevalence after Iron Supplementation among Pregnant Women in Midwifes Practice of Primary Health Care Facilities in Eastern Indonesia

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