Red Blood Cell Disorder Laboratory

Our laboratory is doing research in genetic disorders focussing on the thalassemias, RBC membrane disorders and RBC enzymologies such as G6PD.  These RBC disorders are common in Indonesia and some mutations underlying these disorders are even ethnic specific.

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Publication

  • 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.
  • 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.
  • Severe alpha-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation. Hemoglobin. 2014;38(2):149-51. doi: 10.3109/03630269.2013.863206. Epub 2013 Dec 18.
  • Spatial distribution of G6PD deficiency variants across malaria-endemic regions. Malar J. 2013 Nov 15;12:418. doi: 10.1186/1475-2875-12-418.
  • 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.
  • Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional alpha(+)-thalassemia mutations: diverse hematological and clinical features. Hemoglobin. 2013;37(3):297-305. doi: 10.3109/03630269.2013.775149. Epub 2013 Apr 25.
  • Review of key knowledge gaps in glucose-6-phosphate dehydrogenase deficiency detection with regard to the safe clinical deployment of 8-aminoquinoline treatment regimens: a workshop report. Malar J. 2013 Mar 27;12:112. doi: 10.1186/1475-2875-12-112.
  • 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.
  • Two novel mutations of SRD5A2 gene in Indonesian siblings with clinical 5-alpha-reductase deficiency. J Pediatr Endocrinol Metab. 2010 Dec;23(12):1329-33.
  • Hydrops fetalis associated with homozygosity for Hb Adana [alpha59(E8)Gly-->Asp (alpha2)]. Hemoglobin. 2010;34(4):394-401. doi: 10.3109/03630269.2010.493405.
  • Alpha thalassaemia in Indonesia: phenotypes and molecular defects. Adv Exp Med Biol. 2003;531:47-56.
  • The hemoglobin O mutation in Indonesia: distribution and phenotypic expression. J Hum Genet. 2001;46(9):499-505.

Activities/Topics/Projects