About 745 results

ALLMedicine™ Hereditary Spherocytosis Center

Research & Reviews  281 results

Erythrocyte pyruvate kinase activation in red cell disorders.
Current Opinion in Hematology; Matte A, Federti E et. al.

Mar 1st, 2023 - In red cells, pyruvate kinase is a key enzyme in the final step of glycolytic degradative process, which generates a constant energy supply via ATP production. This commentary discusses recent findings on pyruvate kinase activators as new therapeu...

Clinical Utility of Targeted Next-Generation Sequencing Panel in Routine Diagnosis of H...
European Journal of Haematology; Agarwal AM, McMurty V et. al.

Feb 25th, 2023 - Hereditary hemolytic anemias (HHA) comprise a heterogeneous group of disorders resulting from defective red blood cell (RBC) cytoskeleton, RBC enzyme deficiencies, and hemoglobin (Hb) synthesis disorders such as thalassemia or sideroblastic anemia...

Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundan...
Blood Advances; Cloos AS, Pollet H et. al.

Feb 9th, 2023 - Splenectomy improves clinical parameters of patients with hereditary spherocytosis but its potential benefit to red blood cell (RBC) functionality and the mechanism behind this benefit remain largely overlooked. We here compared 7 non-splenectomiz...

A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis...
Medicine Shih YH, Huang YC et. al.

Jan 28th, 2023 - Hereditary spherocytosis (HS) has a defect in the vertically connected proteins on the cell membrane of red blood cells (RBC). Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally. We reported two fam...

De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children...
BMC Pediatrics; Wang Y, Huang L et. al.

Jan 17th, 2023 - Hereditary spherocytosis (HS) is one of the most common hereditary haemolytic disorders. Here, two unrelated families with the probands displaying typical manifestations of HS were enrolled. Our study aimed to characterize the effect of two novel ...

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Clinicaltrials.gov  14 results

Osmotic Fragility in Red Blood Cells of Pediatric Patients With Cholestatic Liver Disease

Oct 17th, 2022 - Primary Aim: The primary aim is to determine if ektacytometry of red blood cells is abnormal in a population of pediatric patients over age one with cholestasis. Secondary Aims: The secondary aim is to ascertain the extent at which abnormalities i...

Observational Study for Patients With Hemoglobinopathies and Rare Inherited Anemia and Covid 19

May 5th, 2022 - The COVID-19 pandemic is causing many deaths around the world, putting a strain on health services. Patients with pre-existing chronic diseases are most affected by SARS-COV2 infection. Italy is one of the countries most involved. Thalassaemia, dr...

Hereditary Spherocytosis and Vascular Function

Mar 31st, 2022 - Background : Patients with hereditary spherocytosis (HS) are characterized by increased red blood cell (RBC) fragility and a loss of RBC deformability. While the clinical variability of the disease may be heterogenous from one patient to another, ...

Evaluation of Immune Status Before and After Splenectomy in Immune Thrombocytopenia Patients

Aug 27th, 2021 - A total of 30 ITP patients will be enrolled in the study. These patients should fail to have sustained response to multiple first- and second-line treatments of ITP and agree to have splenectomy. Before splenectomy, these patients will be reassess...

Cardiopulmonary Function Assessment and NO-Based Therapies for Patients With Hemolysis-Associated Pulmonary Hypertension

Sep 25th, 2019 - Sickle cell anemia is an autosomal recessive disorder and the most common genetic disease affecting African-Americans. Approximately 0.15% of African-Americans are homozygous for sickle cell disease, and 8% have sickle cell trait. Acute pain crisi...

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News  2 results

Blueberry Muffin Rash Secondary to Hereditary Spherocytosis
Lisa M. Daum, MD, Lindsay R. Sklar, MD et. al.

Feb 5th, 2018 - The term blueberry muffin rash historically was used to describe the cutaneous manifestations observed in congenital rubella. The term traditionally describes the result of a postnatal dermal extramedullary hematopoiesis.

Darier Disease: Sustained Improvement Following Reduction Mammaplasty
Cohen PR

Darier disease is an autosomal-dominant inherited genodermatosis. A woman is described who had Darier disease and hereditary spherocytosis whose inframammary Darier disease had dramatic and sustained improvement following reduction mammaplasty.

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Patient Education  1 results see all →