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About 613 results

ALLMedicine™ Hereditary Spherocytosis Center

Research & Reviews  238 results

Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation link...
https://doi.org/10.1016/j.ajhg.2022.04.013
American Journal of Human Genetics; Sorokin EP, Basty N et. al.

May 15th, 2022 - The spleen plays a key role in iron homeostasis. It is the largest filter of the blood and performs iron reuptake from old or damaged erythrocytes. Despite this role, spleen iron concentration has not been measured in a large, population-based coh...

Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA ge...
https://doi.org/10.1080/16078454.2022.2058736
Hematology (Amsterdam, Netherlands); Kedar P, Dongerdiye R et. al.

Apr 13th, 2022 - LPS-responsive beige-like anchor protein (LRBA) deficiency abolishes LRBA protein expression due to biallelic mutations in the LRBA gene that lead to autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia in early stages, and...

Splenic infarction after Epstein-Barr virus infection in a patient with hereditary sphe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8994260
BMC Surgery; Ma Z, Wang Z et. al.

Apr 11th, 2022 - Hereditary spherocytosis (HS) complicated by splenic infarction is very rare, and it is even rarer to develop splenic infarction after infectious mononucleosis (IM) as a result of Epstein-Barr virus (EBV) infection. Therefore, misdiagnosis or miss...

EPB42-Related Hereditary Spherocytosis - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/epb42-spherocytosis/

Apr 7th, 2022 - EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic nonimmune hemolytic anemia that is usually of mild-to-moderate severity. EPB42-HS can present with jaundice as early as the first 24 hours of life or can present later in childhood wit...

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Clinicaltrials.gov  6 results

Hereditary Spherocytosis and Vascular Function
https://clinicaltrials.gov/ct2/show/NCT04451785

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
https://clinicaltrials.gov/ct2/show/NCT03998059

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
https://clinicaltrials.gov/ct2/show/NCT00352430

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...

Gall Bladder Status Among Children With Chronic Haemolytic Anemia
https://clinicaltrials.gov/ct2/show/NCT03533322

Jul 31st, 2018 - Gall bladder status among children with chronic haemolytic anemia attending to Assuit University Children Hospital Hemolysis is defined as the premature destruction of red blood cells (RBCs) (a shortened RBC life span). Anemia results when the rat...

Hemolysis in Patients With Hereditary Spherocytosis (HS)
https://clinicaltrials.gov/ct2/show/NCT01201174

Sep 14th, 2010 - The oxidative status of cells, which is determined by the balance between pro-oxidants, such as the reactive oxygen species (ROS), and antioxidants, is a major regulator of cellular functions. Impaired balance between pro- and antioxidants causes ...

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News  1 results

Darier Disease: Sustained Improvement Following Reduction Mammaplasty
https://www.mdedge.com/dermatology/article/66988/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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