Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis

Hannah, Dawn; Tressler, Terry; Taboada, Claudia

doi:10.1016/j.crwh.2017.09.003

Cited by 10 publications

(14 citation statements)

References 5 publications

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“…Similarly a case presented at 28 weeks was found in a consanguineous couple, the fetus needed multiple intrauterine blood transfusion and was transfusion dependent after birth . Another case of severe anemia and NIHF of fetus at 25/7 weeks due to autosomal recessive HS required multiple transfusions before and after delivery . All of the cases were reported in the third trimester, when severity of anemia can be assessed by MCA Doppler, in contrast to our case.…”

Section: Discussionmentioning

confidence: 38%

Spontaneous resolution of prenatally diagnosed isolated pleural effusion: An unusual early sign of a newborn disease

Kajdy

Materny²,

Modzelewski

et al. 2019

J of Obstet and Gynaecol

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We present a case report of a fetus with a diagnosed pleural effusion in the first trimester on nuchal translucency scan. The effusion resolved spontaneously by 17 weeks of pregnancy. Toxoplasmosis, rubella, cytomegalovirus, herpes simplex (TORCH)negative. Array comparative genomic hybridization (aCGH)normal. Serial Doppler scans normalno prenatal signs of anemia. Maternal antibodies against red cell antigensnegative. Delivery at term by cesarean section because of macrosomia. Neonate suffered from prolonged jaundice. At 3 weeks of life diagnosed with hereditary spherocytosis. Literature review shows that this may be the first connection between this disease and prenatal life.

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Section: Discussionmentioning

confidence: 38%

Spontaneous resolution of prenatally diagnosed isolated pleural effusion: An unusual early sign of a newborn disease

Kajdy

Materny²,

Modzelewski

et al. 2019

J of Obstet and Gynaecol

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“…Mutations in ANK1, EPB42, SLC4A1, SPTA1, and SPTB have been associated with HS (“Hereditary Spherocytosis,” ). Previous case reports have identified autosomal recessive HS due to alpha‐spectrin deficiency with a severe fetal or neonatal phenotype (Hannah et al, ; Yaish, Christensen, & Agarwal, ). In this case, we identified siblings with biallelic variants in the SPTA1 gene: a maternally inherited c.1677G>T (p. Gly449Gly) VOUS, and a paternally inherited c.4180del (p. Cys1394fs) pathogenic variant.…”

Section: Discussionmentioning

confidence: 99%

“…Both proteins are implicated in HS, with beta‐spectrin mutations seen in autosomal dominant HS and alpha‐spectrin mutations seen in autosomal recessive HS. Alpha‐spectrin deficiency is rare, comprising less than 5% of HS cases (Hannah, Tressler, & Taboada, ). Mutations in ANK1, EPB42, SLC4A1, SPTA1, and SPTB have been associated with HS (“Hereditary Spherocytosis,” ).…”

Section: Discussionmentioning

confidence: 99%

“…Mutations in ANK1, EPB42, SLC4A1, SPTA1, and SPTB have been associated with HS ("Hereditary Spherocytosis," 2019). Previous case reports have identified autosomal recessive HS due to alpha-spectrin deficiency with a severe fetal or neonatal phenotype (Hannah et al, 2017;Yaish, Christensen, & Agarwal, 2013…”

Section: A Next Generation Sequencing Panel From a College Of Americanmentioning

confidence: 99%

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A family affair—Severe fetal and neonatal hemolytic anemia due to novel alpha‐spectrin mutations in two siblings

Donepudi

Westerfield

Stonecipher

et al. 2019

American J of Med Genetics Pt A

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Hereditary spherocytosis (HS) is the most common cause of inherited, nonimmune hemolytic anemia. When inherited in an autosomal dominant fashion, the anemia is typically mild. However, severe, transfusion‐dependent anemia is seen in autosomal recessive HS, which is often associated with deficient or absent red blood cell membrane protein alpha‐spectrin. We report a 26‐year‐old para one who was referred to our center at 28 weeks' gestation due to concerns for fetal anemia. Evaluation revealed elevated peak systolic velocity in the middle cerebral artery by Doppler scan and fetal cardiomegaly. Fetal hematocrit obtained by sampling the umbilical vein was 9% confirming severe fetal anemia. Fetal peripheral smear was consistent with hereditary spherocytosis. Genetic analysis of both parents confirmed heterozygosity for the SPTA1 variants (pathogenic variant c.4180del (p.C1394Afs*25), and a variant of uncertain significance, c.1677G>T (p.G449G)) detected by a hemolytic anemia panel in the patient's first child. It is important to consider genetic causes of anemia in patients presenting with severe nonimmune fetal anemia, including autosomal recessive HS. We present a case of autosomal recessive HS with a novel pathogenic variant in the SPTA1 gene which resulted in significant impact on prenatal management.

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“…The cases of severe fetal anemia are generally managed with in utero erythrocyte transfusions, 123 , 125 while the cases of severe perinatal edema may require in utero punctures or after-birth fluid drainage to avoid severe complications and fatal outcomes. 126 , 131 Symptomatic treatment of the perinatal edema is still being debated to prevent pulmonary hypoplasia or Prune Belly syndrome since spontaneous resolution may occur in the first months of life.…”

Section: Red Cell Membrane Disordersmentioning

confidence: 99%

Recommendations for Pregnancy in Rare Inherited Anemias

et al. 2020

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Rare inherited anemias are a subset of anemias caused by a genetic defect along one of the several stages of erythropoiesis or in different cellular components that affect red blood cell integrity, and thus its lifespan. Due to their low prevalence, several complications on growth and development, and multi-organ system damage are not yet well defined. Moreover, during the last decade there has been a lack of proper understanding of the impact of rare anemias on maternal and fetal outcomes. In addition, there are no clear-cut guidelines outlining the pathophysiological trends and management options unique to this special population. Here, we present on behalf of the European Hematology Association, evidence- and consensus-based guidelines, established by an international group of experts in different fields, including hematologists, gynecologists, general practitioners, medical geneticists, and experts in rare inherited anemias from various European countries for standardized and appropriate choice of therapeutic interventions for the management of pregnancy in rare inherited anemias, including Diamond-Blackfan Anemia, Congenital Dyserythropoietic Anemias, Thalassemia, Sickle Cell Disease, Enzyme deficiency and Red cell membrane disorders.

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Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis

Cited by 10 publications

References 5 publications

Spontaneous resolution of prenatally diagnosed isolated pleural effusion: An unusual early sign of a newborn disease

Spontaneous resolution of prenatally diagnosed isolated pleural effusion: An unusual early sign of a newborn disease

A family affair—Severe fetal and neonatal hemolytic anemia due to novel alpha‐spectrin mutations in two siblings

Recommendations for Pregnancy in Rare Inherited Anemias

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