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hereditary Xerocytosis

An autosomal dominant hemolytic anemia characterized by primary ERYTHROCYTE DEHYDRATION. Patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and decreased osmotic fragility. Hydrops fetalis and pseudohyperkalemia of erythrocytes may also be present, along with complications such as SPLENOMEGALY and CHOLELITHIASIS. Mutations in the PIEZO1 gene have been identified. OMIM: 194380
Also Known As:
Xerocytosis, hereditary; Dehydrated hereditary stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis; Desiccytosis, hereditary; Hereditary Xerocytosis
Networked: 59 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Iron Overload
2. hereditary Xerocytosis
3. Dehydration (Water Stress)
4. Hemolytic Anemia
5. Edema (Dropsy)

Experts

1. Picard, Véronique: 7 articles (01/2022 - 01/2013)
2. Garçon, Loïc: 5 articles (01/2022 - 01/2019)
3. Guitton, Corinne: 4 articles (01/2022 - 01/2019)
4. Delaunay, Jean: 4 articles (01/2013 - 01/2003)
5. Patapoutian, Ardem: 3 articles (01/2021 - 01/2013)
6. Gallagher, Patrick G: 3 articles (08/2017 - 08/2012)
7. Andolfo, Immacolata: 2 articles (01/2021 - 01/2019)
8. Caulier, Alexis: 2 articles (01/2021 - 01/2020)
9. Demagny, Julien: 2 articles (01/2021 - 01/2020)
10. Guizouarn, Hélène: 2 articles (01/2021 - 11/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to hereditary Xerocytosis:
1. CationsIBA
2. Ion Channels (Ion Channel)IBA
3. Hemoglobin CIBA
4. Proteins (Proteins, Gene)FDA Link
5. PotassiumIBA
6. SpectrinIBA
09/21/1979 - "Significant alterations in the spectrin: band 3 and band 4.1a: band 4.1b ratios and an occasional decrease in the peak height of band 4.2 with respect to band 4.1 were found in electrophoretic patterns of red cell membranes from patients with hereditary xerocytosis. "
06/10/2007 - "The final conclusion is that this method detects membrane defects with altered spectrin and anion channel syndrome (hereditary xerocytosis, spherocytosis, poikilocytosis and pyropoikilocytosis, elliptocytosis and stomatocytosis) and, after refreshment, helps differentiate them from the anemia with hemoglobinopathy."
05/01/1988 - "In order to determine if in vivo generated hemoglobin-spectrin complexes may play a role in increased membrane rigidity of certain pathologic red cells, we measured both these parameters in membranes prepared from hereditary xerocytosis (Hx), sickle cell disease (Sc), and red cells from thalassemia minor (beta thal). "
01/01/2019 - "We recorded whole-cell currents from 29 patients with different types of congenital haemolytic anaemias: 14 with hereditary spherocytosis due to mutations in α-spectrin, β-spectrin, ankyrin and band 3 protein; 6 patients with hereditary xerocytosis due to mutations in Piezo1; 6 patients with enzymatic disorders (3 patients with glucose-6-phosphate dehydrogenase deficiency, 1 patient with pyruvate kinase deficiency, 1 patient with glutamate-cysteine ligase deficiency and 1 patient with glutathione reductase deficiency), 1 patient with β-thalassemia and 2 patients, carriers of several mutations and a complex genotype. "
7. Monovalent CationsIBA
8. CalciumIBA
9. Phosphatidylcholines (Phosphatidylcholine)IBA
10. Hydrogen Peroxide (Hydroperoxide)FDA LinkGeneric

Therapies and Procedures

1. Splenectomy
2. Heart Transplantation (Grafting, Heart)
3. Chelation Therapy (Therapy, Chelation)
4. Glycemic Control