ArticleThe Journal of clinical investigation1995
Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
Article in The Journal of clinical investigation, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 72 citations in OpenAlex.
- Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.Human genetics · 2025Article
- Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.Annals of hematology · 2024Article
- Heterozygous variants in SPTBN1 cause intellectual disability and autism.American journal of medical genetics. Part A · 2021Article
- Rapid Identification of BiallelicMolecular syndromology · 2020Article
- Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis.Frontiers in physiology · 2020Article
- Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis.Case reports in women's health · 2017Article
- Diagnostic approaches for inherited hemolytic anemia in the genetic era.Blood research · 2017Review
- New insights on hereditary erythrocyte membrane defects.Haematologica · 2016Review
- Spectrin tetramer formation is not required for viable development in Drosophila.The Journal of biological chemistry · 2015Article
- Article
- Erythrocyte disorders in the perinatal period.Seminars in perinatology · 2007Review
- Nonimmune hydrops fetalis in two cases of consanguineous parents and associated with hereditary spherocytosis and hemophagocytic hystiocytosis.Journal of perinatology : official journal of the California Perinatal Association · 2007Article
- Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?Journal of medical genetics · 1998Article
- Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.The Journal of clinical investigation · 1997Article
- Of mice and men: the mice were right.The Journal of clinical investigation · 1995Article
Corrections and comments
- Commented on by
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We studied a kindred in which four third-trimester fetal losses occurred, associated with severe Coombs-negative hemolytic anemia and hydrops fetalis. Postmortem examination of two infants revealed extensive extramedullary erythropoiesis. Studies of erythrocytes and erythrocyte membranes from the parents revealed abnormal erythrocyte membrane mechanical stability as well as structural and functional abnormalities in spectrin, the principal structural protein of the erythrocyte membrane. Genetic studies identified a point mutation of the beta-spectrin gene, S2019P, in a region of beta spectrin that is critical for normal spectrin function. Both parents and two living children were heterozygous for this mutation; three infants dying of hydrops fetalis were homozygous for this mutation. In an in vitro assay using recombinant peptides, the mutant beta-spectrin peptide demonstrated a significant abnormality in its ability to interact with alpha spectrin. This is the first description of a molecular defect of the erythrocyte membrane associated with hydrops fetalis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.