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Case Reports
. 2017 Oct 2:16:4-7.
doi: 10.1016/j.crwh.2017.09.003. eCollection 2017 Oct.

Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis

Dawn M Hannah  1 , Terry B Tressler  1 , Claudia D Taboada  1
Affiliations
Case Reports

Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis

Dawn M Hannah et al. Case Rep Womens Health. .

Abstract

Background: Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane. The disorder is commonly inherited in an autosomal dominant fashion and leads to a mild to moderate anemia. The autosomal recessive form of hereditary spherocytosis is rarely reported in association with fetal anemia and hydrops fetalis.

Case: A 25 year old G5 P2112 at 25 2/7 weeks gestation presents with severe fetal anemia and nonimmune hydrops fetalis requiring multiple fetal intrauterine transfusions. After delivery, the neonate required several double volume exchange transfusions and ultimately was diagnosed with autosomal recessive hereditary spherocytosis weeks after birth. The neonate was identified to have a rare homozygous genetic mutation, SPTA1c.6154delG, which leads to absent production of normal α-spectrin.

Conclusion: The case highlights the importance of considering less common genetic mutations involving the RBC structural proteins when patients present with severe fetal anemia and nonimmune hydrops fetalis.

Keywords: Autosomal recessive; Fetal anemia; Hereditary spherocytosis; Nonimmune hydrops fetalis; SPTA1; α-Spectrin.

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Figures

Fig. 1
Fig. 1
Abdominal ascites prior to first PUBS procedure.
Fig. 2
Fig. 2
Pericardial effusion prior to first PUBS procedure.
Fig. 3
Fig. 3
Improvement in abdominal ascites status post initial PUBS procedure.
Fig. 4
Fig. 4
Improvement in pericardial effusion status post initial PUBS procedure.
See this image and copyright information in PMC

References

    1. Kilpatrick S.J. Anemia and Pregnancy. In: Creasy R.K., Resnik R., Iams J.D., Lockwood C.J., Moore T.R., Greene M.F., editors. 7th ed. Elsevier; 2014. pp. 918–931. (Maternal Fetal Medicine).
    1. Segel G.B., Casey D. Hereditary Spherocytosis . In: 20th ed. Kliegman R.M., Stanton B.F., St Geme J.W., Schor N.F., editors. Elsevier; 2016. (Nelson Textbook of Pediatrics). P. 2330-2330.e1.
    1. Yetgin S., Aytac S., Gurukan F., Yurdakok M. Nonimmune hydrops fetalis in two cases of consanguineous parents and associated with hereditary spherocytosis and hemophagocytic hystiocytosis. J. Perinatol. 2007;27:252–254. - PubMed
    1. Whitfield C.F., Follweiler J.B., Lopresti-Morrow L., Miller B.A. Deficiency of α-spectrin synthesis in burst forming units-erythroid in lethal hereditary spherocytosis. Blood. 1991;78:3043–3051. - PubMed
    1. Gallagher P.G., Weed S.A., Tse W.T., Benoit L., Morrow J.S., Marchesi S.L. Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. J. Clin. Invest. 1995;95:1174–1182. - PMC - PubMed

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