Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Jan;63(1):257-262.
doi: 10.1111/trf.17177. Epub 2022 Nov 8.

Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report

Emeline Maisonneuve  1   2   3   4 , Marlène Sohier Lepine  3   5 , Paul Maurice  3   4 , Serge Pissard  6 , Bertrand Lafon  3   4 , Agnès Mailloux  7 , Ferdinand Dhombres  3   4 , Guy Leverger  8 , Jean-Marie Jouannic  3   4
Affiliations
Free article
Case Reports

Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report

Emeline Maisonneuve et al. Transfusion. 2023 Jan.
Free article

Abstract

Background: Pyruvate Kinase (PK) deficiency is the most common enzyme defect of glycolysis, leading to congenital hemolytic anemia, which can occur during the neonatal period.

Study design and methods: We report the prenatal management of fetal anemia related to PK deficiency in a family with a severe proband.

Results: The couple had a first child born with hydrops, whose PK deficiency was diagnosed at 18 months of life. He was treated with allogeneic bone marrow transplantation. The second child was free from disease. For the third pregnancy, the amniocentesis revealed a PK deficiency. Weekly ultrasound monitoring of the middle cerebral artery velocity allowed the detection of severe fetal anemia. Two intrauterine red blood cell transfusions (IUTs) were performed, raising the fetal hemoglobin from 6.6 to 14.5 g/dl at 28 weeks' gestation and from 8.9 to 15.3 g/dl at 31 weeks. A hematopoietic stem cell allograft was discussed prenatally but not chosen, as it would not have significantly changed the perinatal prognosis. The patient delivered a 2730 g girl at 37 weeks, with hemoglobin of 13.6 g/dl. The child presented with neonatal jaundice treated with phototherapy and received postnatal transfusions.

Discussion: When a proband is identified in a family, fetal investigation is warranted, to set up third-trimester ultrasound surveillance and perinatal management. In case of fetal severe anemia of unknown etiology, the workup on fetal blood sampling before IUT should comprise the search for erythrocytes enzymopathies, such as PK deficiency. IUTs allow safer full-term delivery in cases with PK deficiency.

Keywords: congenital hemolytic anemia; hematopoietic stem cell transplantation; intrauterine transfusion; pregnancy; prenatal diagnosis; pyruvate kinase deficiency.

PubMed Disclaimer

References

REFERENCES

    1. Bianchi P, Fermo E, Glader B, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94(1):149-61.
    1. Valentine WN, Tanaka KR, Miwa S. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. Trans Assoc Am Physicians. 1961;74:100-10.
    1. Bianchi P, Fermo E, Lezon-Geyda K, et al. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020;95(5):472-82.
    1. Pissard S, Max-Audit I, Skopinski L, et al. Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations. Br J Haematol. 2006;133(6):683-9.
    1. Pissard S, de Montalembert M, Bachir D, et al. Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis. J Pediatr. 2007;150(4):443-5.

Publication types

MeSH terms

Substances

Supplementary concepts