medigraphic.com
ISSN 0035-0052 (Print)

2026, Number 1

<< Back Next >>

Rev Mex Pediatr 2026; 93 (1)

Autosomal dominant type 2 elliptocytosis

Sánchez-Pinzón CA, Atencia-Herrera CM, Sánchez-Tordecilla MM, Puerta-Lara MC, Corredor-Motta JP

Language: Spanish
References: 23
Page: 36-40
PDF size: 756.77 Kb.


ABSTRACT

Introduction: hereditary elliptocytosis (HE) is a rare disorder of the erythrocyte membrane, with wide clinical and genetic heterogeneity. Although most patients have a mild course, some may present severe hemolytic anemia from the neonatal period. We present the case of a pediatric patient with autosomal dominant type 2 HE, treated in Cartagena, Colombia. Case description: a male infant presented in the neonatal period with severe hemolytic anemia, jaundice, and recurrent transfusion requirements. Initial studies ruled out immunological and infectious causes. The peripheral blood smear showed poikilocytosis and morphological alterations suggestive of erythrocyte membrane abnormalities. As part of the diagnostic workup, molecular analysis was performed using a genetic panel, identifying a heterozygous pathogenic variant in the SPTA1 gene (NM_003126.2:c.83G›A; p.Arg28His), thus confirming the diagnosis. The patient has experienced episodes of hemolysis related to respiratory infections but has maintained adequate growth and development. Conclusions: type 2 HE should be considered in the differential diagnosis of neonatal non-immune hemolytic anemia. Genetic testing is essential for diagnostic confirmation.


REFERENCES

  1. Mohandas N, Gallagher PG. Red cell membrane: past, present,and future. Blood. 2008; 112(10): 3939-3948. doi: 10.1182/blood-2008-07-161166.

  2. Mohandas N. Inherited hemolytic anemia: a possessive beginner’sguide. Hematology Am Soc Hematol Educ Program. 2018; 2018(1): 377-381. doi: 10.1182/asheducation-2018.1.377.

  3. Franck P, Postma C, Spaans A, Veuger M, de Kort G, Hudig C etal. Hereditary elliptocytosis: variable clinical severity caused bythree variants in the alpha-spectrin gene. Int J Lab Hematol. 2018; 40(4): e66-e70. doi: 10.1111/ijlh.12837.

  4. Gallagher PG. Hereditary elliptocytosis: spectrin and protein4.1R. Semin Hematol. 2004; 41(2): 142-164. doi: 10.1053/j.seminhematol.2004.01.003.

  5. Coetzer T, Lawler J, Prchal JT, Palek J. Molecular determinants ofclinical expression of hereditary elliptocytosis and pyropoikilocytosis.Blood. 1987; 70(3): 766-772.

  6. Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicingmutation of the alpha-spectrin gene in the original hereditarypyropoikilocytosis kindred. Blood. 2005; 106(13): 4367-4369. doi:10.1182/blood-2005-05-1813.

  7. Dhermy D, Garbarz M, Lecomte MC, Feo C, Bournier C,Chaveroche I et al. Hereditary elliptocytosis: clinical, morphologicaland biochemical studies of 38 cases. Nouv Rev Fr Hematol. 1986;28: 129-140.

  8. Glele-Kakai C, Garbarz M, Lecomte MC, Leborgne S, Galand C,Bournier O et al. Epidemiological studies of spectrin mutationsrelated to hereditary elliptocytosis and spectrin polymorphismsin Benin. Br J Haematol. 1996; 95(1): 57-66. doi: 10.1046/j.1365-2141.1996.d01-1869.x.

  9. Dhermy D, Schrével J, Lecomte MC. Spectrin-based skeletonin red blood cells and malaria. Curr Opin Hematol. 2007; 14(3):198-202. doi: 10.1097/MOH.0b013e3280d21afd.

  10. Bayhan T, Unal S, Gümrük F. Hereditary elliptocytosis withpyropoikilocytosis. Turk J Haematol. 2016; 33(1): 86-87. doi:10.4274/tjh.2015.0054.

  11. Zaidi AU, Buck S, Gadgeel M, Herrera-Martinez M, MohanA, Johnson K et al. Clinical diagnosis of red cell membranedisorders: comparison of osmotic gradient ektacytometry andeosin-5-maleimide fluorescence test for red cell band 3 (AE1,SLC4A1) content. Front Physiol. 2020; 11: 636. doi: 10.3389/fphys.2020.00636.

  12. Gallagher PG. Red cell membrane disorders. HematologyAm Soc Hematol Educ Program. 2005; 13-18. doi: 10.1182/asheducation-2005.1.13.

  13. Jha SK, Vaqar S. Hereditary elliptocytosis. In: StatPearls [Internet].Treasure Island (FL): StatPearls Publishing; 2024.

  14. Morrow JS, Rimm DL, Kennedy SP, Cianci CD, Sinard JH, WeedSA. Of membrane stability and mosaics: the spectrin cytoskeleton.Compr Physiol. 1997; 485-540. doi: 10.1002/cphy.cp140111.

  15. Gaetani M, Mootien S, Harper S, Gallagher PG, SpeicherDW. Structural and functional effects of hereditary hemolyticanemia-associated point mutations in the alpha-spectrintetramer site. Blood. 2008; 111(12): 5712-5720. doi: 10.1182/blood-2007-11-122457.

  16. Ipsaro JJ, Harper SL, Messick TE, Marmorstein R, MondragónA, Speicher DW. Crystal structure and functional interpretation ofthe erythrocyte spectrin tetramerization domain complex. Blood.2010; 115(23): 4843-4852. doi: 10.1182/blood-2010-01-261396.

  17. Coetzer T, Palek J, Lawler J, Liu SC, Jarolim P, Lahav M etal. Structural and functional heterogeneity of alpha-spectrinmutations involving the spectrin heterodimer self-association site:relationships to hematologic expression of homozygous hereditaryelliptocytosis and hereditary pyropoikilocytosis. Blood. 1990;75(11): 2235-2244.

  18. Liu C, Eun HS, Nah H, Lee ST, Choi JR, Kim HO. Newbornhereditary elliptocytosis confirmed by familial genetic testing. IntJ Lab Hematol. 2020; 42(1): e20-e22. doi: 10.1111/ijlh.13079.

  19. Jiang S, Lu R, Tang J. A rare case report of hemolysis in a newborn:hereditary elliptocytosis. Front Pediatr. 2024; 12: 1485318. doi:10.3389/fped.2024.1485318.

  20. Pang L, Zeng Z, Ding Y, Huang H, Li H. Case report: whole-exomesequencing for a hereditary elliptocytosis case with unexpectedlylow HbA1c. Front Med (Lausanne). 2023; 10: 1301760. doi:10.3389/fmed.2023.1301760.

  21. Moreno Toro N, Gámez Belmonte A, Alperi García S, MorillasMingorance A, Ortega Acosta MJ, Urrutia Maldonado E et al.Hereditary elliptocytosis: A novel mutation in the SPTA1 gene anddiagnosis after a stroke in paediatric patients. A two-case report.Pediatr Blood Cancer. 2023; 70(7): e30316. doi: 10.1002/pbc.30316.

  22. Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-SaadK et al. Molecular insights into hereditary elliptocytosis andpyropoikilocytosis: NGS uncovers multiple potential candidategenes. Ann Hematol. 2023; 102(9): 2343-2351. doi: 10.1007/s00277-023-05337-9.

  23. Zarkowsky HS, Mohandas N, Speaker CB, Shohet SB. Acongenital haemolytic anaemia with thermal sensitivity of theerythrocyte membrane. Br J Haematol. 1975; 29(4): 537-543. doi:10.1111/j.1365-2141.1975.tb02740.x.




2020     |     www.medigraphic.com