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Overview

Our Red Blood Cell Membrane and Enzyme Disorders unit studies genetic variants affecting the function and integrity of the human red blood cell membrane and enzymes, as well as other inherited hematological conditions. Currently our unit is focusing on the prevalence and genetic diversity of G6PD deficiency in Indonesia, and other molecular risk factors of hyperbilirubinemia in Indonesia.

In collaboration with the Genetic Counselling Unit of our Institute, our unit is also working on the detection of G6PD deficiency, red blood cell spherocytosis, and other inherited disorders such as Prader-Willi Syndrome (PWS) and/or Angelman Syndrome (AS), and Duchene Muscular Dystrophy (DMD).

Staff

  • Alida Roswita Harahap
  • Ari Winasti Satyagraha
  • Arkasha Sadhewa
  • Lydia Visita Panggalo
  • Rahmadania Marita Joesoef

Projects

People

Publication

  1. Genotypes and phenotypes of G6PD deficiency among Indonesian females across diagnostic thresholds of G6PD activity guiding safe primaquine therapy of latent malaria.
    PLoS Negl Trop Dis. 2021 Jul 16;15(7):e0009610. doi: 10.1371/journal.pntd.0009610. eCollection 2021 Jul.
    PubMed
  2. Non-nutritional anemia: Malaria, thalassemia, G6PD deficiency and tuberculosis in Indonesia.
    Asia Pac J Clin Nutr. 2020;29(Suppl 1):S32-S40. doi: 10.6133/apjcn.202012_29(S1).04.
    PubMed
  3. Correction: Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis.
    PLoS Med. 2020 Jul 24;17(7):e1003311. doi: 10.1371/journal.pmed.1003311. eCollection 2020 Jul.
    PubMed
  4. Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis.
    PLoS Med. 2020 May 14;17(5):e1003084. doi: 10.1371/journal.pmed.1003084. eCollection 2020 May.
    PubMed
  5. Case Report: A Case of Primaquine-Induced Hemoglobinuria in Glucose-6-Phosphate Dehydrogenase-Deficient Malaria Patient in Southeastern Bangladesh.
    Am J Trop Med Hyg. 2019 Nov 4. doi: 10.4269/ajtmh.19-0643.
    PubMed
  6. Point-of-Care Testing for G6PD Deficiency: Opportunities for Screening.
    Int J Neonatal Screen. 2018;4(4):34. doi: 10.3390/ijns4040034. Epub 2018 Nov 19.
    PubMed
  7. Addressing the gender-knowledge gap in glucose-6-phosphate dehydrogenase deficiency: challenges and opportunities.
    Int Health. 2018 Sep 3. pii: 5090118. doi: 10.1093/inthealth/ihy060.
    PubMed
  8. Assessment of Point-of-Care Diagnostics for G6PD Deficiency in Malaria Endemic Rural Eastern Indonesia.
    PLoS Negl Trop Dis. 2016 Feb 19;10(2):e0004457. doi: 10.1371/journal.pntd.0004457. eCollection 2016 Feb.
    PubMed
  9. G6PD Deficiency at Sumba in Eastern Indonesia Is Prevalent, Diverse and Severe: Implications for Primaquine Therapy against Relapsing Vivax Malaria.
    PLoS Negl Trop Dis. 2015 Mar 6;9(3):e0003602. doi: 10.1371/journal.pntd.0003602. eCollection 2015 Mar.
    PubMed
  10. Noninferiority of glucose-6-phosphate dehydrogenase deficiency diagnosis by a point-of-care rapid test vs the laboratory fluorescent spot test demonstrated by copper inhibition in normal human red blood cells.
    Transl Res. 2014 Sep 28. pii: S1931-5244(14)00336-3. doi: 10.1016/j.trsl.2014.09.009.
    PubMed
  11. Spatial distribution of G6PD deficiency variants across malaria-endemic regions.
    Malar J. 2013 Nov 15;12:418. doi: 10.1186/1475-2875-12-418.
    PubMed
  12. G6PD testing in support of treatment and elimination of malaria: recommendations for evaluation of G6PD tests.
    Malar J. 2013 Nov 4;12:391. doi: 10.1186/1475-2875-12-391.
    PubMed
  13. G6PD deficiency: global distribution, genetic variants and primaquine therapy.
    Adv Parasitol. 2013;81:133-201. doi: 10.1016/B978-0-12-407826-0.00004-7.
    PubMed

Activities/Topics/Projects