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All Journal Medica Hospitalia Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML)
Moedrik Tamam
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Biochemistry, Genetics & Molecular Biology Dentistry Health Professions Medicine & Pharmacology Neuroscience Nursing Public Health

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Pemberian Vitamin C sebagai Antioksidan terhadap Fragilitas Osmotik Eritrosit pada Thalassemia Mayor Ricki Rajagukguk; Sholeh Kosim; Moedrik Tamam
Medica Hospitalia : Journal of Clinical Medicine Vol. 2 No. 2 (2014): Med Hosp
Publisher : RSUP Dr. Kariadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (266.42 KB) | DOI: 10.36408/mhjcm.v2i2.100

Abstract

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 thalassemia
IDENTIFIKASI MUTASI H63D GEN HFE PADA KELAINAN HBE Yanuarita Tursinawati; Nyoman Suci Widyastiti; Moedrik Tamam
INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY Vol 22, No 2 (2016)
Publisher : Indonesian Association of Clinical Pathologist and Medical laboratory

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24293/ijcpml.v22i2.1123

Abstract

The H63D HFE mutation has been reported to be responsible for primary haemochromatosis. The allele frequency in Indonesianpopulation is about 2.8%. Co inheritance between H63D mutation and hemoglobin disorders such as Thalassemia may increase theseverity of iron overload. Nevertheless, the coinheritance of this mutation with HbE disorder is the most common hemoglobin disorderin Indonesia and the gene frequency have not been reported especially in Javanese ethnic. To identify the presence and the frequency ofH63D HFE mutation in HbE disorder among Javanese ethnic. A cross sectional study involved 24 Javanese individuals who consist of21 HbE heterozygotes (HbAE) and 3 HbE homozygotes (HbEE) subjects. The subjects were screened for H63D mutation by digestion ofPCR products with MbO I restriction endonuclease. The genotype frequency for wt/wt was 95.24% in HbAE, 100% in HbEE and for wt/H63D was 4.76% in HbAE. The allele frequency for H63D HFE mutation was 2.08% in total sample of HbE. The allele frequencies inHbAE and HbEE individual were 2.38% and 0%, respectively. H63D HFE mutation is found in 24 Javanese ethnic individual with HbEdisorder. However, the allele frequency of H63D HFE mutation is low and almost similar to the allele frequency of H63D HFE mutationin Indonesian population.
Co-Authors Nyoman Suci Widyastiti Ricki Rajagukguk Sholeh Kosim Yanuarita Tursinawati