ALLMedicine™ Hereditary Spherocytosis Center

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...

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...

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...

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...

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 ...

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...

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...

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, ...

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...

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...

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 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.