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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Nonimmune hydrops fetalis in two cases of consanguineous parents and associated with hereditary spherocytosis and hemophagocytic hystiocytosis

Abstract

Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with hereditary spherocytosis and hemophagocytic hystiocytosis. We think that babies with hydrops fetalis born of consanguineous parents should be examined for hereditary diseases, and that these rare causes should be taken into account in problematic cases.

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References

  1. Castillo RA, Devoe LD, Hadi HA, Martin S, Geist D . Nonimmune hydrops fetalis: clinical experience and factors related to a poor outcome. Am J Obstet Gynecol 1986; 155: 812–816.

    Article  CAS  Google Scholar 

  2. Jones DC . Non immune fetal hydrops: diagnosis and obstetrical management. Semin Perinatol 1995; 19: 447–461.

    Article  CAS  Google Scholar 

  3. Whitfield CF, Follweiler JB, Morrow LL, Miller BA . Deficiency of α-spectrin synthesis in burst forming units – erythroid in lethal hereditary spherocytosis. Blood 1991; 78: 3043–3051.

    CAS  PubMed  Google Scholar 

  4. Gallagher PG, Petruzzi MJ, Weed SA, Zhang Z, Marchesi SL, Mohandas N et al. Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia. J Clin Invest 1997; 99: 267–277.

    Article  CAS  Google Scholar 

  5. Gallagher PG, Weed SA, Tse WT, Benoit L, Morrow JS, Marchesi SL et al. Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. J Clin Invest 1995; 95: 1174–1182.

    Article  CAS  Google Scholar 

  6. Malloy CA, Polinski C, Alkan S, Manera R, Challapalli M . Hemophagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis. J Perinatol 2004; 24: 458–460.

    Article  Google Scholar 

  7. Gallagher PG, Prchal JT, Bonkovky HL . Red cell membrane disorders. In: American Society of Hematology 47th Annual Meeting Educating Program Book 2005, pp 13–18.

  8. Henter JI, Elinder G, Ost A . Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society. Oncology 1991; 18: 29–33.

    CAS  Google Scholar 

  9. Janka G, Imashuku S, Elinder G, Schneider M, Henter J-I . Infection and malignancy-associated hemophagocytic syndromes: secondary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am 1998; 12: 435–444.

    Article  CAS  Google Scholar 

  10. Janka GE, Schneider EM . Modern management of children with hemophagocytic lymphohistiocytosis. Br J Haematol 2004; 124: 4–14.

    Article  Google Scholar 

  11. Tse WT, Lux SE . Red blood cell membrane disorders. Br J Haematol 1999; 104: 2–13.

    Article  CAS  Google Scholar 

  12. Gallagher PG . Update on the clinical spectrum and genetics of red blood cell membrane disorders. Curr Hematol Rep 2004; 3: 85–91.

    PubMed  Google Scholar 

  13. Wichterle H, Hanspal M, Palek J, Jarolim P . Combination of two mutant α spectrin alleles underlies severe spherocytic hemolytic anemia. J Clin Invest 1996; 98: 2300–2307.

    Article  CAS  Google Scholar 

  14. Remacha AF, Badel I, Pujol-Moix N, Parra J, Muniz-Diaz E, Ginovart G et al. Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. Blood 2002; 100: 356–358.

    Article  CAS  Google Scholar 

  15. Ferreira P, Morais L, Costa R, Resende C, Dias CP, Araujo F et al. Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency. Eur J Pediatr 2000; 159: 481–492.

    Article  CAS  Google Scholar 

  16. Ishii E, Ohga S, Imashuku S, Kimura N, Ueda I, Morimoto A et al. Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences. Crit Rev Oncol Hematol 2005; 53: 209–223.

    Article  Google Scholar 

  17. Gahr M, Jendrossek V, Peters AM, Tegtmeyer F, Heyne K . Sea blue histiocytes in the bone marrow of variant chronic granulomatous disease with residual monocyte NADPH-oxidase activity. Br J Haematol 1991; 78: 278–280.

    Article  CAS  Google Scholar 

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Correspondence to S Yetgin.

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Yetgin, S., Aytac, S., Gurakan, F. et al. Nonimmune hydrops fetalis in two cases of consanguineous parents and associated with hereditary spherocytosis and hemophagocytic hystiocytosis. J Perinatol 27, 252–254 (2007). https://doi.org/10.1038/sj.jp.7211657

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