Ali GÜNGÖR, HÜSNİYE NEŞE YARALI, Ali FETTAH, İkbal OK BOZKAYA, Namık ÖZBEK, Abdurrahman KARA

Hereditary spherocytosis: Retrospective evaluation of 65 children

Hereditary spherocytosis (HS) is a common cause of congenital hemolyticanemia in Caucasians and it could be diagnosed at any age. The aim of thisstudy is to examine the demographic characteristics, clinical features andlaboratory findings of children with HS and their complications observedduring follow up. Sixty-five patients, with hereditary spherocytosis betweenJanuary 2008 and September 2013, were enrolled into this retrospective study.The age of patients at the time of diagnosis varied between 15 days and 17years. The median age of patients at diagnosis was 48 months (IQR 2-78).The female/male ratio was 1.1. Forty-seven patients (72.3%) had a familyhistory of HS. The patients were classified according to laboratory findings:13 of them (20%) were diagnosed as mild HS, 36 (55.4%) as moderate HSand of 16 (24.6%) as severe HS. During follow-up, nine patients (13.8%)experienced an aplastic crisis. Megaloblastic crisis was not observed inany patient. Twenty patients (30.8%) had cholelithiasis. Splenectomy wasperformed in 20% of patients and the mean age for splenectomy was 8.3years. Complications such as sepsis or thrombosis were not detected aftersplenectomy. Hereditary spherocytosis should be kept in mind in patients withanemia, jaundice and splenomegaly and the family history must be questioned.The most common complication was gallstone; even patients without severehemolysis should be followed intermittently by abdominal ultrasonographyin order to control the development of gallstone

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1. Lux SE. Disorders of the red cell membrane. In: Orkin SH, Nathan DG, Gingsburg D, Look TA, Fisher DE, Lux SE (eds). Nathan and Oski’s Hematology of Infancy and Childhood (8th ed). Philadelphia: WB Saunders, 2015; 515-548.

2. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ. Guidelines for the diagnosis and management of hereditary spherocytosis–2011 update. Br J Haematol 2012; 156: 37-49.

3. Eber S, Lux SE. Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol 2004; 41: 118-141.

4. Segel GB. Hereditary spherocytosis. In: Behrman RE, Kliegman RM, Jenson HB (eds). Nelson Textbook Pediatrics (18th ed). Philadelphia: WB Saunders, 2007: 2020-2023.

5. Rocha S, Costa E, Rocha-Pereira P, et al. Complementary markers for the clinical severity classification of hereditary spherocytosis in unsplenectomized patients. Blood Cells Mol Dis 2011; 46: 166-170.

6. Gallagher PG. Red cell membrane disorders. Hematology Am Soc Hematol Educ Program 2005: 13-18.

7. Miraglia del Giudice E, Iolascon A, Pinto L, Nobili B, Perrotta S. Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis. Br J Haematol 1994; 88: 52-55.

8. Yawata Y, Kanzaki A, Yawata A, Doerfler W, Ozcan R, Eber SW. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol 2000; 71: 118-135.

9. Ayhan AC, Yildiz I, Yüzbaşıoğlu S, et al. Erythrocyte membrane protein defects in hereditary spherocytosis patients in Turkish population. Hematology 2012; 17: 232-236.

10. Christensen RD, Yaish HM, Gallagher PG. A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. Pediatrics 2015; 135: 1107-1114.

11. Pinto L, Iolascon A, Miraglia del Giudice E, Materese MR, Nobili B, Perrotta S. The Italian survey on hereditary spherocytosis. Int J Pediatr Hematol Oncol 1995; 2: 43-47.

12. Oliveira MC, Fernandes RA, Rodrigues CL, Ribeira DA, Giovanardi MF, Viana M. Clinical course of 63 children with hereditary spherocytosis: A retrospective study. Rev Bras Hematol Hemoter 2012; 34: 9-13.

13. Michaels LA, Cohen AR, Zhao H, Raphael RI, Manno CS. Screening for hereditary spherocytosis by use of automated erythrocyte indexes. J Pediatr 1997; 957- 960.

14. Brown KE. Haematological consequences of parvovirus B19 infection. Baillieres Best Pract Res Clin Haematol 2000; 13: 245-259.

15. Pincez T, Guitton C, Gauthier F, et al. Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study. Blood 2016; 127: 1616-1618.

16. Das A, Bansal D, Das R, Trehan A, Marwaha RK. Hereditary spherocytosis in children: Profile and post-splenectomy outcome. Indian Pediatr 2014; 51: 139-141.

17. Tracy ET, Rice HE. Partial splenectomy for hereditary spherocytosis. Pediatr Clin North Am 2008; 55: 503- 519.