Mutation spectrum of Î²-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:10.14715/10.14715/cmb/2017.63.12.6

Cited by 3 publications

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“…The other anemia state is predicted based on an SLI < 1530 (19.6%), and this group is suspected to be β -TT or carrier. Together with another nonanemic pregnant with low SLI (17.6%), our study result in a total of 37.2% suspected β -TT or other hemoglobinopathies, which is much higher than β -TT data in the western part of Indonesia [12]. This interesting result needs further confirmation.…”

Section: Discussionsupporting

confidence: 46%

“…Furthermore, infections such as helminthes and malaria are endemic in the developing countries, leading to IDA in pregnant women [10, 11]. Moreover, genetic factors may also play a crucial factor in the synthesis of globin of the red blood cells [12]. Our previous study in the western part of Indonesia has shown an unexpected high number of pregnant women with hemoglobinopathy disorders, and the midwives are unaware about the screening of the carrier [13].…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 46%

Section: Introductionmentioning

confidence: 99%

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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“…Splice-site mutations causing β-thalassemia were detected using the amplification refractory mutation system (ARMS) employing primer sets A-D for InterVening Sequence (IVS)-1-5 (G>C) and IVS-1-1 (G>C) (11), and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using primer sets TLF62028-TLR62320 and restriction endonuclease Cac81 for IVS-1-5 (G>C) and IVS-1-2 (T>C) (Table 1). (8,12) Other mutation was investigated using DNA sequencing. DNA fragment of about 704-bp covering exon1, intron1 and exon2 of β-globin gene was amplified using standard PCR.…”

Section: Molecular Detection For β-Globin Gene Mutationmentioning

confidence: 99%

“…(4) In Indonesia, mutation spectrum for β-thalassaemia has been reported in East Kalimantan and West Java. (8,9) However, study on β-thalassemia in Yogyakarta Special Region is limited to its haematological analysis (10), while the molecular study is absent. Therefore, through this study, we aim to report the mutations responsible for β-thalassemia from thalassemia carrier screening conducted in Yogyakarta Special Region.…”

Section: Introductionmentioning

confidence: 99%

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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A Spectrum of Β-Thalassemia Mutations in Sulaimani Province of Iraq: Identification of Novel Mutations

Ahmad,

Karim,

Rasool

et al. 2023

JSMC

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Backgroundβ-thalassemia is a most common hereditary disease where the patients suffer from decreased or absence of beta-globin chain synthesis, which leads to hemolytic anaemia and other complications. Very little data about beta-globin mutations in the Kurdish population is available to date. ObjectiveThis study aimed to provide a more precise picture of the β-thalassemia mutations spectrum and to estimate their frequencies. MethodsA cohort of 100 β-thalassemia patients was tested to detect mutations in the beta-globin gene’s regions (3 exons and two introns) using molecular techniques (polymerase chain reaction and Sanger sequencing). ResultsIn this study, a total of 31 beta-thalassemia mutations were identified. The results showed that IVSII-666 C>T and IVSII-16 G>C were predominant over other mutations, with 59% of thalassemic patients having these mutations. Other common mutations found, in order of decreasing frequency, were Cd2 T>C, IVSII-74 T>G, IVS1-110 G>A, IVSI-5 G>C, IVSII-1 G>A, IVSII-81 C>T. The remaining mutations were uncommon and accounted for a few cases. More importantly, five novel beta-thalassemia mutations, namely, IVSII-13G>A, IVSII-14 A>C, IVSII-17 delC, IVSII-68_69 dupG, and Cd2/3 +C, were discovered which have not been previously reported in other populations. ConclusionThe results obtained in this study can be used as a guide before prenatal diagnosis and during premarital screening of β-thalassemia in the Kurdish population.

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Mutation spectrum of Î²-globin gene in thalassemia patients at Hasan Sadikin Hospital - West Java Indonesia

Cited by 3 publications

References 0 publications

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

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

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

A Spectrum of Β-Thalassemia Mutations in Sulaimani Province of Iraq: Identification of Novel Mutations

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