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Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis

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 here...

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Autores principales: Hannah, Dawn M., Tressler, Terry B., Taboada, Claudia D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842958/
https://www.ncbi.nlm.nih.gov/pubmed/29594000
http://dx.doi.org/10.1016/j.crwh.2017.09.003
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author Hannah, Dawn M.
Tressler, Terry B.
Taboada, Claudia D.
author_facet Hannah, Dawn M.
Tressler, Terry B.
Taboada, Claudia D.
author_sort Hannah, Dawn M.
collection PubMed
description 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.
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spelling pubmed-58429582018-03-28 Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis Hannah, Dawn M. Tressler, Terry B. Taboada, Claudia D. Case Rep Womens Health Article 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. Elsevier 2017-10-02 /pmc/articles/PMC5842958/ /pubmed/29594000 http://dx.doi.org/10.1016/j.crwh.2017.09.003 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Hannah, Dawn M.
Tressler, Terry B.
Taboada, Claudia D.
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
title Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
title_full Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
title_fullStr Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
title_full_unstemmed Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
title_short Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
title_sort nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842958/
https://www.ncbi.nlm.nih.gov/pubmed/29594000
http://dx.doi.org/10.1016/j.crwh.2017.09.003
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