ArticleCase reports in hematology2017
Hereditary Xerocytosis due to Mutations in
Article in Case reports in hematology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.American journal of hematology · 2019Guideline
- Hereditary Spherocytosis: Linking Ion Transport Defects to Osmotic Gradient Ektacytometry Profiles-A Review.International journal of molecular sciences · 2026Review
- Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Reversal of Stress-Induced PIEZO1 Elevation with Mechanically Adapted Epicardial Patch for Myocardial Infarction Treatment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.Journal of Korean medical science · 2024Review
- Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.Human genome variation · 2023Article
- Emerging Piezo1 signaling in inflammation and atherosclerosis; a potential therapeutic target.International journal of biological sciences · 2022Review
- Characterization of hereditary red blood cell membranopathies using combined targeted next-generation sequencing and osmotic gradient ektacytometry.International journal of hematology · 2021Article
- Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.Frontiers in physiology · 2021Article
- Recent advances in exercise pressor reflex function in health and disease.Autonomic neuroscience : basic & clinical · 2020Review
- Molecular heterogeneity of pyruvate kinase deficiency.Haematologica · 2020Review
- Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning.British journal of haematology · 2020Article
- How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia?Annals of translational medicine · 2020Article
- Congenital Hemolytic Anemias: Is There a Role for the Immune System?Frontiers in immunology · 2020Review
- [Hereditary stomatocytosis with PIEZO1 gene mutations: report of five cases and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2019Review
- Dehydrated hereditary stomatocytosis: clinical perspectives.Journal of blood medicine · 2019Article
- Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.Frontiers in physiology · 2019Article
- Squeezing for Life - Properties of Red Blood Cell Deformability.Frontiers in physiology · 2018Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increased risk of thromboembolic complications. We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively. Two patients had been splenectomised and displayed thrombotic episodes. All patients had iron overload in the absence of transfusion, two of them requiring iron chelation. The diagnosis of HX was confirmed by LoRRca Osmoscan analysis showing a left-shifted curve.
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.