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BMC Med Genet ; 20(1): 136, 2019 08 09.
Artigo em Inglês | MEDLINE | ID: mdl-31399060


BACKGROUND: Thalassemia is the most common inherited disease in the world, involving α- or ß-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 ß-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 HbA2 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 HbA2 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 ß-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 ß-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.

Diagnóstico Precoce , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Globinas beta/genética , Talassemia beta/genética , Adolescente , Sequência de Bases , Eritrócitos , Feminino , Hemoglobinas/genética , Humanos , Indonésia , Masculino , Deleção de Sequência
Open Access Maced J Med Sci ; 7(12): 1931-1934, 2019 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-31406531


BACKGROUND: Neuregulin (NRG) 1 plays an important role in the development of various organ systems in human. Single nucleotide polymorphisms rs35753505 C/Tof the gene encoding NRG1 evident as allele C and T with genotypes of CT, CC, and TT are believed to have an impact on NRG1 levels. AIM: To determine the impact of the NRGrs35753505 C/T polymorphisms on NRG1 levels in preterm infants. METHODS: A cross-sectional study was conducted from February to December 2018, whereas 48 eligible preterm infants with a gestational age of 32- < 37 weeks were enrolled. An umbilical cord blood specimen was collected for determination of NRG1 levels with enzyme-linked immunosorbent assay (ELISA) and NRG1 polymorphisms with polymerase chain reaction (PCR). Statistical analysis was performed with 95%CI and P value of < 0.05 was considered statistically significant. RESULTS: Median value of NRG1 levels (174.4 pg/ml) served as a cut off value. NRG 1 polymorphisms composed distribution of CC (31%), CT (42%), TT (27%) genotypes and distribution of C and T alleles were 52% and 48%. The median NRG1 levels in CC and CT genotypes were significantly lower compared to TT genotype (151.1 pg/ml vs 407.2 pg/ml, P = 0.005 and 159.1 pg/ml vs 407.2 pg/ml, P = 0.009). Subjects with C allele had significantly lower median NRG1 levels than T allele (151.1 pg/ml vs 407.2 pg/ml, P = 0.002). Subjects with CC and CT genotypes had higher risk to develop lower NRG1 levels compared to TT genotype (OR = 8.25, P = 0.016 and OR = 10.74, P = 0.005, respectively). CONCLUSION: Allele C is associated with lower NRG1 levels. Preterm infants with CC and CT genotypes pose a higher risk to have lower NRG1 levels.

Pediatr Int ; 56(5): 720-5, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24617923


BACKGROUND: Premature infants with low birthweight (LBW) and asphyxia are at high risk of delay of language and visual-motor development. Environmental risk factors contributing to the delay include parents' education, family income, number of children in the family, exclusive breast-feeding, and the mother's parenting time. Lack of research in Indonesia on premature, LBW and mild asphyxia children minimizes information to parents on the importance of an optimal environment. The aim of this study was to observe the role of the environment as a risk factor for delay in language and visual-motor development. METHODS: A cross-sectional study was carried out from June to December 2011 of 12-24-month-old children born premature, with LBW and mild asphyxia at the Hasan Sadikin, Bandung City, and Muhammadiyah Hospitals. Language and visual-motor development were measured by Capute scales. Risk factors were analyzed using chi-squared test and multivariate logistic regression analysis. RESULTS: Of the 70 subjects, 49% had language and visual-motor delay. Environmental factors related to the delay were low parental education, low family income, non-exclusive breast-feeding (P < 0.001) and full-time maternal parenting (P < 0.05). On multivariate analysis non-exclusive breast-feeding was associated with a 175-fold risk (prevalence rate [PR], 174.756; 95% confidence interval [CI]: 10.407-2934.516, P < 0.001), and low family income, a 0.042-fold risk (PR 0.042; 95%CI: 0.005-0.321, P < 0.05). CONCLUSION: Low family income and non-exclusive breast-feeding are risk factors for delay in language and visual-motor development in 12-24-month-old children born premature, with LBW and mild asphyxia.

Deficiências do Desenvolvimento/epidemiologia , Meio Social , Asfixia Neonatal/complicações , Estudos Transversais , Deficiências do Desenvolvimento/etiologia , Feminino , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido Prematuro , Masculino , Transtornos das Habilidades Motoras/epidemiologia , Transtornos das Habilidades Motoras/etiologia , Fatores de Risco , Percepção Visual