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Letters to the Editor
JEYANTHY ESWARAN - jeyanthy.eswaran@newcastle.ac.uk doi:10.3324/haematol.2020.268581
Received: August 9, 2020.
Accepted: October 28, 2020.
Pre-published: November 12, 2020.
Disclosures: no conflicts of interest to disclose.
Contributions:RR,MRandRMcontributedtothedataand samples; NY performed the blood smear and PCR tests, analyzed results and collected the cohort; NY, MS, AL, EJM and JE analyzed the cohort data, and prepared the figures and tables; LJB, MS and JE wrote the manuscript.
Acknowledgments: the authors would like to thank the patients and their families for their full cooperation without which this report would not have been possible.
References
1. Wrong O, Bruce LJ, Unwin RJ, Toye AM, Tanner MJA. AE1 muta- tions, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int. 2002;62(1):10-19.
2. Laosombat V, Dissaneevate S, Wongchanchailert M, Satayasevanaa B. Neonatal anemia associated with Southeast Asian ovalocytosis. Int J Hematol. 2005;82(3):201-205.
3. Liu SC, Jarolim P, Rubin HL, et al. The homozygous state for the AE1 protein mutation in Southeast Asian ovalocytosis may be lethal. Blood. 1994;84(10):3590-3591.
4. Picard V, Proust A, Eveillard M, et al. Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis. Blood. 2014;123(12):1963-1965.
5. Wilder JA, Stone JA, Preston EG, Finn LE, Ratcliffe HL, Sudoyo H.
Molecular population genetics of SLC4A1 and Southeast Asian oval-
ocytosis. J Hum Genet. 2009;54(3):182-187.
6. Rabe T, Jambou R, Rabarijaona L, et al. South-East Asian ovalocyto-
sis among the population of the Highlands of Madagascar: a vestigé of the island's settlement. Trans R Soc Trop Med Hyg. 2002;96(2):143-144.
7. Allen SJ, O'Donnell A, Alexander ND, et al. Prevention of cerebral malaria in children in Papua New Guinea by Southeast Asian oval- ocytosis AE1. Am J Trop Med Hyg. 1999;60(6):1056-1060.
8.Rosanas-Urgell A, Lin E, Manning L, et al. Reduced risk of Plasmodium vivax malaria in Papua New Guinean children with Southeast Asian Ovalocytosis in two cohorts and a case-control study. PLoS Med. 2012;9(9):e1001305.
9. Bruce LJ, Beckmann R, Ribeiro ML, et al. A AE1-based macrocom- plex of integral and peripheral proteins in the RBC membrane. Blood. 2003;101(10):4180-4188.
10. Kager L, Bruce LJ, Zeitlhofer P, et al. AE1 null (VIENNA), a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acido- sis. Pediatr Blood Cancer. 2017;64(3).
11. Ribeiro ML, Alloisio N, Almeida H, et al. Severe hereditary sphero- cytosis and distal renal tubular acidosis associated with the total absence of AE1. Blood. 2000;96(4):1602-1604.
12. Khositseth S, Bruce LJ, Walsh SB, et al. Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients. QJM. 2012;105(9):861-877.
13. Flatt JF, Stevens-Hernandez CJ, Cogan NM, et al. Expression of South East Asian ovalocytic AE1 disrupts erythroblast cytokinesis and reticulocyte maturation. Front Physiol. 2020;11:357.
14. Asnawi AW, Sathar J, Nasir SF, Mohamed R, Jayaprakasam KV, Vellapandian ST. Homozygous Southeast Asian hereditary oval- ostomatocytosis: management dilemma. Pediatr Blood Cancer. 2015;62(10):1872-1873.
15. Yusoff NM, Van Rostenberghe H, Shirakawa T, et al. High preva- lence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. J Hum Genet. 2003;48(12):650-653.
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