Vitamin E effect on osmotic fragility in β thalassemia major

Background Blood transfusion remains the main therapy for anemia in β thalassemia major patients. However, frequent transfusions can cause oxidative stress in response to iron overload. Vitamin E is considered to be the best lipid-soluble exogenous antioxidant in humans. It can protect phospholipid membrane from peroxidarion. Erythrocyte osmotic fragility is a useful test to assess for the improvement of red blood cells in thalassemia patients after vitamin E supplementation. Objective To investigate the effect of vitamin E for improving erythrocyte osmotic fragility in β thalassemia major and for decreasing the need for frequent transfusions. Methods T his was a double blind placebo controlled randomized clinical trial on children aged 2-14 years with thalassemia major who received frequent blood transfusions. Fifty subjects were divided into 2 groups: group I with vitamin E supplementation and group II with placebo, as a control group, for a period of 1 month. Pre- and post-treatment data on erythrocyte osmotic fragility and hemoglobin level were analyzed with non-paired T-test. Results Improved erythrocyte osmotic fragility was found: in group I, pre-treatment 31.59 (SD 6.342)% to post-treatment 38.08 (SD 7.165)%, compared to the control group pre-treatment 34.40 (SD 6.985)% to post-treatment 29.26 (SD 9.011)% (P=0.0001). Comparison of the mean delta Hb level in group  I was 0.94 (SD 0.605) gr% and that of group II was - 0.23 (SD 1.199) gr% (P=0.0001). Conclusion Vitamin E supplementation improves erythrocyte fragility and Hb level in β thalassemia major pediatric patients

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers

Background. Thalassaemia has become a major public health issue in Indonesia. It has been estimated that up to 10% of the population carries a gene associated with beta-thalassaemia. Currently, there is no formal recommendation for thalassaemia screening. This study aimed to explore awareness of thalassaemia, and to explore attitudes regarding carrier testing among Javanese mothers. Methods. A quantitative questionnaire, designed using constructs of the Theory of Planned Behaviour, was applied cross-sectionally. Results. Out of 191 mothers who were invited, 180 agreed to participate (RR 94%), of whom 74 had a child affected with thalassaemia. Both attitudes towards receiving information about thalassaemia, and attitudes towards carrier testing were very positive. Awareness of thalassaemia was poor. Mothers, both those with and without an affected child, had barely heard of thalassaemia, nor of carrier testing. However, all mothers, including those with an affected child expressed high levels of interest in carrier testing. Respondents did not perceive that they had any control over carrier testing, and feared stigmatization and being discriminated against if their carrier status was identified. Attitudes towards carrier testing explained 23% of future reproductive intentions, in addition to perceived stigmatization, education level and ‘mother’s age’ (R2 0.44; p 0.001). Conclusion. Responding mothers expressed high levels of interest in receiving information on both thalassaemia and carrier testing. The less educated and the more deprived they were, the keener they were to receive this information. Overall, awareness of thalassaemia was low. Even mothers with affected children seemed unaware of the inheritance pattern and the recurrent risk of having an affected child in a subsequent pregnancy, showing the need for genetic counselling in Indonesia. It is therefore recommended not only to raise awareness about thalassaemia, but to improve the education of healthcare professionals as well. Keywords: thalassaemia; carrier screening; Javanese mothers; genetic awareness; Theory of Planned Behaviour (TpB); awareness; Indonesi

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers

Background. Thalassaemia has become a major public health issue in Indonesia. It has been estimated that up to 10% of the population carries a gene associated with beta-thalassaemia. Currently, there is no formal recommendation for thalassaemia screening. This study aimed to explore awareness of thalassaemia, and to explore attitudes regarding carrier testing among Javanese mothers. Methods. A quantitative questionnaire, designed using constructs of the Theory of Planned Behaviour, was applied cross-sectionally. Results. Out of 191 mothers who were invited, 180 agreed to participate (RR 94%), of whom 74 had a child affected with thalassaemia. Both attitudes towards receiving information about thalassaemia, and attitudes towards carrier testing were very positive. Awareness of thalassaemia was poor. Mothers, both those with and without an affected child, had barely heard of thalassaemia, nor of carrier testing. However, all mothers, including those with an affected child expressed high levels of interest in carrier testing. Respondents did not perceive that they had any control over carrier testing, and feared stigmatization and being discriminated against if their carrier status was identified. Attitudes towards carrier testing explained 23% of future reproductive intentions, in addition to perceived stigmatization, education level and ‘mother’s age’ (R2 0.44; p 0.001). Conclusion. Responding mothers expressed high levels of interest in receiving information on both thalassaemia and carrier testing. The less educated and the more deprived they were, the keener they were to receive this information. Overall, awareness of thalassaemia was low. Even mothers with affected children seemed unaware of the inheritance pattern and the recurrent risk of having an affected child in a subsequent pregnancy, showing the need for genetic counselling in Indonesia. It is therefore recommended not only to raise awareness about thalassaemia, but to improve the education of healthcare professionals as well. Keywords: thalassaemia; carrier screening; Javanese mothers; genetic awareness; Theory of Planned Behaviour (TpB); awareness; Indonesi

Glucose-6-phosphate dehydrogenase deficiency and Southeast Asian ovalocytosis in asymptomatic Plasmodium carriers in Sumba island, Indonesia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Southeast Asian ovalocytosis (SAO) caused by a 27-bp deletion in the band 3 gene (Band3Delta 27) are well-documented genetic traits resistant to malarial diseases; however, relationships between these traits and asymptomatic malaria infection hitherto had not been investigated. Filter-blotted blood samples were collected from a total of 210 healthy individuals, 100 males and 110 females, aged 6-17 years, in Sumba island, Indonesia, to survey for the presence of Plasmodium parasites, G6PD activity and the Band3Delta 27 mutation. Presence of P. falciparum and/or P. vivax was identified in 25 subjects (11.9%). In all, 24 subjects (11.4%) showed Band3Delta 27 heterozygously. In males and females, eight and nine subjects, respectively, showed G6PD deficiency. There was no significant difference in the prevalence of asymptomatic malaria infection between individuals with or without these traits (P > 0.05). No alterations in the prevalence of asymptomatic malaria infection suggest that parasite invasion into erythrocytes is unlikely to be a target phase in which the two polymorphisms demonstrate possible protective effects against malaria

Faktor Risiko Terjadinya Demam Neutropenia pada Anak Leukemia Limfoblastik Akut

Latar belakang. Demam neutropenia merupakan suatu sindrom yang terdiri dari dua gejala, yaitu adanya demam dan neutropenia yang didefinisikan sebagai absolute neutrophils count/ANC <500 sel/mm3, yang seringkali muncul pada pasien keganasan akibat penyakit maupun pengobatannya. Leukemia limfoblastik akut merupakan keganasan hematologi dengan kemungkinan sembuh yang cukup tinggi, adanya komplikasi demam neutropenia meningkatkan angka mortalitas. Tujuan. Mencari faktor risiko terjadinya demam neutropenia pada LLA Metode. Studi pada 26 kasus anak yang dipilih secara consecutive sampling dan 26 kontrol. Kasus adalah pasien LLA yang menderita demam neutropenia sedangkan kontrol pasien LLA yang tidak demam neutropenia. Faktor risiko demam neutropenia pada anak dengan LLA yang diteliti meliputi dosis terapi sitostatika risiko tinggi, status gizi, status sosial ekonomi, durasi pemakaian infus dan hipoalbuminemia. Statistik yang digunakan adalah uji t, Chi square, dan analisis multivariat dengan uji regresi logistik berganda.. Hasil. Studi univariat status sosial ekonomi miskin merupakan faktor risiko terhadap kejadian demam neutropenia dengan nilai OR sebesar 4,591 kali dibandingkan pasien yang tidak miskin (p=0,032; 95%CI=1,078-15,086). Terapi sitostatika risiko tinggi(p=0,109; 95%CI=0,09-1,308), status gizi(p=0,382; 95%CI=0,439-4,699), rerata durasi pemakaian infus (p=0,5; 95%CI=0,442-4,790) dan hipoalbuminemia (p=-0,271; 95%CI=0,522-5,969) bukan risiko terhadap kejadian demam neutropenia. Analisis multivariat tidak didapatkan adanya faktor risiko yang berpengaruh secara bermakna terhadap kejadian demam neutropenia (p>0,05) Kesimpulan. Pasien LLA dengan sosial ekonomi rendah berisiko tinggi terhadap demam neutropenia

Faktor yang Memengaruhi Kadar NT-proBNP pada Anak dengan PJB Pirau Kiri ke Kanan yang Mengalami Gagal Jantung

Latar belakang. Amino terminal pro-brain natriuretic peptide (NT-proBNP) merupakan neurohormon jantung yang dikeluarkan sebagai respon terhadap beban tekanan dan volume yang berlebihan pada gagal jantung. Secara teori, faktor yang memengaruhi kadar NT-proBNP di antaranya anemia, frekuensi ISPA sering, dan diameter defek besar. Tujuan. Membuktikan bahwa anemia, frekuensi ISPA sering, dan diameter defek besar sebagai faktor yang dapat memengaruhi kadar NT-proBNP pada anak dengan PJB pirau kiri ke kanan yang mengalami gagal jantung. Metode. Penelitian kasus kontrol, subjek 50 anak PJB pirau kiri ke kanan yang mengalami gagal jantung di RSUP dr. Kariadi, terdiri atas 25 anak dengan kadar NT-proBNP di atas cut off point sebagai kasus dan 25 anak di bawah cut off point sebagai kontrol. Kadar NT-proBNP dianalisis dengan metode ELISA, sedangkan uji Mann-Whitney untuk perbedaan kadar NT-proBNP masing-masing kelompok. Hasil. Kelompok kasus didapatkan rentang usia 2-91 bulan (median 25 bulan), 16 (53,3%) perempuan, 21 (84%) diameter defek besar, dan 19 (76%) malnutrisi. Pada kelompok kontrol didapatkan rentang usia 2-121 bulan (median 35 bulan), 17 (65,4%) perempuan, 13(52%) diameter defek besar, dan 14(56%) malnutrisi. Frekuensi ISPA sering dan diameter defek merupakan faktor risiko peningkatan kadar NT-proBNP (OR=3,43; p=0,041; IK95%: 1,26-11,47) dan (OR=4,846; p=0,015; IK95%: 1,287-18,25). Anemia bukan merupakan faktor risiko (OR=1,0; p=1,00; IK95%:0,25-3,99). Kesimpulan. Frekuensi ISPA sering dan diameter defek besar merupakan faktor risiko peningkatan kadar NT-proBNP pada anak dengan PJB pirau kiri ke kanan yang mengalami gagal jantung, sedangkan anemia bukan merupakan suatu faktor risiko

Status Besi Bayi Sehat 8 – 10 Bulan Setelah Pemberian Vitamin C 75 mg pada Saat Makan

Latar belakang. Anemia defisiensi besi (ADB) adalah salah satu masalah kesehatan gizi utama di dunia. Prevalensi anemia pada anak balita di negara berkembang sekitar 40%-45%. Manifestasi klinis ADB yang paling serius adalah gangguan fungsi otak jangka panjang. Vitamin C merupakan nutrien yang mempunyai peranan penting dalam absorbsi besi non hem dan bekerja optimal bila dikonsumsi bersamaan pada jam makan. Efektivitas absorbsi tersebut ditunjukan dengan perbaikan status besi (hemoglobin, serum besi, feritin, TIBC, dan kadar hepsidin). Tujuan. Menilai pengaruh pemberian vitamin C 75 mg saat makan selama 2 bulan pada bayi sehat usia 8 - 10 bulan terhadap status besi. Metode. Penelitian randomised control trial, dilakukan di Puskesmas Bulu Lor Semarang. Pengambilan sampel darah pada 60 bayi sehat yang terbagi menjadi kelompok intervensi dan plesebo. Pemeriksaan darah vena untuk pemeriksaan hemoglogin (Hb), serum besi, TIBC, ferritin, dan hepsidin. Data diuji dengan Kolmogorov smirnov, uji t-berpasangan jika distribusi data normal atau Mann Whitney jika distribusi data tidak normal. Hasil. Tidak terdapat perbedaan bermakna antara Hb di awal dan di akhir penelitian pada dua kelompok (p>0,05). Terdapat perbedaan bermakna pada kadar serum besi dan feritin di awal dan akhir penelitian pada serum besi dan feritin pada kelompok intervensi (p<0,05). Kesimpulan.Pemberian vitamin C 75 mg pada saat makan dapat mempertahankan kadar Hb dan meningkatkan kadar serum besi dan feritin

Pemberian Vitamin C sebagai Antioksidan terhadap Fragilitas Osmotik Eritrosit pada Thalassemia Mayor

Latar belakang : Vitamin C berperan sebagai antioksidan untuk melawan peroksidasi membran fosfolipid yang disebabkan oleh stres oksidatif sehingga diharapkan dapat memperbaiki fragilitas osmotic mendekati rentang normal. Pemeriksaan fragilitas osmotik eritrosit dulu sejarahnya dilakukan untuk uji tapis beta thalassemia mayor. Tranfusi darah masih merupakan pengobatan utama untuk menanggulangi anemia pada thalassemia pada saat ini. Pemberian tranfusi berulang menyebabkan penimbunan besi yang berlebihan yang selanjutnya mengakibatkan kerusakan oksidatif. Tujuan penelitian ini untuk membuktikan apakah pemberian vitamin C dapat memperbaiki fragilitas osmotik eritrosit pada pasien β thalassemi

Status Gizi, Eosinofilia dan Kepadatan Parasit Malaria Anak Sekolah Dasar di Daerah Endemis Malaria

Latar belakang. Interaksi antara infeksi, status gizi dan imunitas telah lama diketahui, tetapi penelitian tentang interaksi ini di daerah endemis malaria masih terbatas. Tujuan. Bertujuan untuk mengetahui hubungan kepadatan parasit malaria dengan status gizi, kadar hemoglobin dan respon eosinofilia pada anak sekolah dasar di daerah endemis malaria. Metode. Penelitian belah lintang pada anak SD yang dipilih secara cluster random sampling di Kabupaten Sumba Timur Nusa Tenggara Timur pada tahun 2003. Diambil data status gizi, kadar hemoglobin, kepadatan parasit malaria dan jumlah eosinofilia dari darah subjek. Hasil. Dari 137 anak (57 laki-laki dan 83 perempuan) dengan rerata umur (11,5 ± 1,37) tahun, didapatkan gizi kurang 63,6%. Tiga belas persen anak terdapat parasit malaria pada sediaan darah, eosinofilia pada 32,9% anak. Kepadatan parasit malaria tinggi 7,9%. Kepadatan parasit malaria tidak berhubungan dengan jenis kelamin, suku bangsa dan status gizi, tetapi kepadatan parasit malaria tinggi meningkatkan risiko anemia 2,1 kali (RP 2,1; 95% KI 1,6-2,8 ; p=0,006) dan tidak terjadinya respon eosinofilia 2,9 kali (RP 2,9; 95% KI 1,9-4,2 ; p=0,001) . Kesimpulan. Sebagian besar anak mempunyai status gizi kurang. Kepadatan parasit malaria tidak berhubungan dengan jenis kelamin, suku bangsa dan status gizi. Tetapi kepadatan parasit malaria yang tinggi akan meningkatkan risiko anemia 2,1 kali dan tidak adanya respon eosinofilia 2,9 kali