Early Screening of Hemoglobinopathy in Indonesia Using Erythrocyte Indices

Surjawan, Yenny; Tan, Hwee Lian; Setiabudy, Rahajuningsih Dharma; Rositawati, Wiwik

doi:10.18585/inabj.v9i2.313

Cited by 9 publications

(8 citation statements)

References 3 publications

(8 reference statements)

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“…(4,14) Red blood cell count can also be used to predict thalassemia carrier using erythrocyte indices such as Mentzer index, Shine and Lal index (S&L), and Green and King index (G&K), though its sensitivity were heavily affected by the presence of iron deficiency. (15) The average value of HbA2 in this study was 5±0.81% in which close to a similar study in Malaysia (5.14±0.55%). ( 16) Erythrocyte morphological change is very prominent in patient, while in carrier is less severe.…”

Section: Discussionsupporting

confidence: 88%

Splice-site and Frameshift Mutations of β-Globin Gene Found in Thalassemia Carrier Screening in Yogyakarta Special Region, Indonesia

et al. 2021

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BACKGROUND: β-thalassemia is an inherited blood disorder that relatively common in Southeast Asian countries. In Indonesia, it is estimated that 200,000 infants with thalassemia carrier born each year. Mutation causing β-thalassemia is highly varied and relatively specific in a population. This study aimed to identify the mutations responsible for β-thalassemia from Thalassemia Carrier Screening conducted in Yogyakarta Special Region. This information is beneficial for developing a strategic prevention program to control thalassemia in the region.METHODS: Twenty-eight blood samples of haematologically suspected β-thalassemia from participant of thalassemia screening program in Yogyakarta Special Region were investigated for β-globin gene mutation by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), amplification refractory mutation system (ARMS) and DNA sequencing.RESULTS: Our samples showed average HbA2 value of 5±0.81% and HbF value of 2±2.29%. It showed eight abnormal erythrocyte morphologies dominated by hypochromia (96.4%), cigar cell (85.7%), and microcytosis (78.6%). Our molecular investigation identified three splice-site mutations namely InterVening Sequence (IVS)-1-5 (G>C) (71.4%), IVS-1-2 (T>C) (7.1%), and IVS-1-1 (G>T) (3.6%), two frameshift mutations that are CD35 (-C) (10.7%) and CD8/9 (+G) (3.6%), and a missense mutation of CD6 (GAG>GTG) (3.6%).CONCLUSION: Our study concluded on a high prevalence of IVS-1-5 (G>C) mutation in Yogyakarta Special Region. This mutation information is significant for developing a strategic prevention program to control thalassemia in the region, for example for developing a rapid molecular test for future screening program.KEYWORDS: β-Globin gene, thalassemia, screening, carrier, mutation, Yogyakarta

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Section: Discussionsupporting

confidence: 88%

Splice-site and Frameshift Mutations of β-Globin Gene Found in Thalassemia Carrier Screening in Yogyakarta Special Region, Indonesia

et al. 2021

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“…We noted that HbA1C examination might be bias because of anemia (Hb 10.2 g/dL vs 9.7 g/dL) and hemoglobinopathy. Considering that about 50% Indonesian population had hemoglobinopathy trait, 39 we could not rule out this possibility. RBG level also did not differ significantly, perhaps because our subjects already may have consumed anti-diabetic drugs before arriving at the hospital.…”

Section: Discussionmentioning

confidence: 97%

Characteristics of Diabetic Foot Ulcer Patients Pre- and During COVID-19 Pandemic: Lessons Learnt From a National Referral Hospital in Indonesia

Yunir

Tarigan

Iswati

et al. 2022

J Prim Care Community Health

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Background: Diabetic foot ulcer (DFU) is one of the most terrifying diabetic complications for patients, due to the high mortality rate and risk for amputation. During the COVID-19 pandemic, many diabetic patients limited their visits to the hospital, resulting in delays for treatment especially in emergency cases. Objective: This study aimed to compare the characteristics of patients with DFU pre- and during COVID-19 pandemic period. Methods: This study was a retrospective cohort study using foot registry data. We compared our patients’ characteristics pre-COVID-19 pandemic period (1 March 2019-28 February 2020) and during COVID-19 pandemic period (1 March 2020-28 February 2021). Results: Cohorts of 84 and 71 patients with DFU pre- and during COVID-19 pandemic period, respectively, were included in this study. High infection grade (66.7% vs 83.1%, P = .032), osteomyelitis event (72.6% vs 87.3%, P = .04), leukocyte count (15 565.0/μL vs 20 280.0/μL, P = .002), neutrophil-to-lymphocyte ratio (7.7 vs 12.1, P = .008), waiting time-to-surgery (39.0 h vs 78.5 h, P = .034), and number of major amputation (20.2% vs 39.4%, P = .014) were significantly higher during the COVID-19 pandemic period. Conclusion: During the COVID-19 pandemic, patients with DFU had more severe infection, higher proportion of osteomyelitis, longer waiting time for getting surgical intervention, and higher incidence of major amputation.

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“…( due to iron deficiency or BTC. (17) In Indonesia itself, new cut-off erythrocyte index has been explored and showed a better validity for Green & King as well as for RDWI (21), however, for simple mass screening using simple blood counter equipment in the primary health care this can not be well performed.…”

Section: Discussionmentioning

confidence: 99%

Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State

et al. 2022

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BACKGROUND: Being located in the global thalassemia belt area, Indonesia is estimated harboring about 10% thalassemia carriers; however, screening program is still diversely scattered across the country. Numerous erythrocyte indices have been introduced to help identifying thalassemia carriers with contradictory results. Therefore, this study had compared the use of mean corpuscular volume (MCV) and/or mean corpuscular hemoglobin (MCH) values and the most erythrocyte indices used in Indonesia which were Mentzer Index (MI) and Shine & Lal Index (SLI), as a first attempt in a mass screening for β-thalassemia carrier.METHODS: This was a retrospective study, evaluating laboratory data from family members of thalassemia major subjects. The sensitivity and specificity of MI and SLI were calculated. HbA2 >3.5% was used as a golden standard for β-thalassemia carrier and DNA examination was conducted to confirm β-globin mutation.RESULTS: Out of 160, 28.8% of the subjects had low Hb concentration. Interestingly, 79.4% of the subjects had low MCV and/or MCH with or without low Hb concentration. In this study, specificity and sensitivity of MI were 82.2% and 83.8%, whereas of SLI were 96% and 40.5%, respectively. Low MCV and/or MCH had covered IVS1nt5 and Cd26 mutation at β-globin gene; whereas MI and SLI had missed some samples, leading to false negative of thalassemia carrier results, when using MI or SLI only.CONCLUSION: MCV<80 fl and/or MCH<27 pg is the best first round mass screening method for β-thalassemia carrier in a limited facility area. However, Hb electrophoresis should be gradually installed regionally in various places wherever possible, as well as DNA analysis to confirm the mutation for an optimal carrier diagnosis.KEYWORDS: HbA2, HbE, iron deficiency anemia, Mentzer Index, Shine and Lal Index

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Early Screening of Hemoglobinopathy in Indonesia Using Erythrocyte Indices

Cited by 9 publications

References 3 publications

Splice-site and Frameshift Mutations of β-Globin Gene Found in Thalassemia Carrier Screening in Yogyakarta Special Region, Indonesia

Splice-site and Frameshift Mutations of β-Globin Gene Found in Thalassemia Carrier Screening in Yogyakarta Special Region, Indonesia

Characteristics of Diabetic Foot Ulcer Patients Pre- and During COVID-19 Pandemic: Lessons Learnt From a National Referral Hospital in Indonesia

Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State

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