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About 1,126 results

ALLMedicine™ Hereditary Spherocytosis Center

Research & Reviews  561 results

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese chi...
https://doi.org/10.1002/mgg3.1577
Molecular Genetics & Genomic Medicine; Xie F, Lei L et. al.

Feb 23rd, 2021 - Objective to summarize the clinical features and laboratory findings of 28 Chinese children with hereditary spherocytosis (HS), and analyze these mutations. Collected and analyzed the clinical data of all children and their parents, and completed ...

Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in ...
https://doi.org/10.1177/0009922820987110
Clinical Pediatrics; Matossian M, Warrier R et. al.

Jan 22nd, 2021 - Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series.|2021|Matossian M,Warrier R,Kattar N,|

Atypical hereditary spherocytosis phenotype associated with pseudohypokalaemia and a ne...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733106
BMJ Case Reports; Ramasamy I

Dec 10th, 2020 - Red blood cell (RBC) membrane disorders are predominantly caused by mutations resulting in decreased RBC deformability and permeability. We present a family in which, the proband and his daughter presented with pseudohypokalaemia. Studies on the t...

Open heart surgery in an infant with hereditary spherocytosis and a review of literature.
https://doi.org/10.1111/jocs.15220
Journal of Cardiac Surgery; Menon S, Saxena MS et. al.

Dec 7th, 2020 - Hemolytic anemia often challenges congenital heart surgery. Hereditary spherocytosis is a rare familial hemolytic anemia. When associated with congenital heart disease, the safe performance of cardiopulmonary bypass becomes a priority. The increas...

Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassem...
https://doi.org/10.1080/16078454.2020.1846874
Hematology (Amsterdam, Netherlands); Chen M, Ye YP et. al.

Nov 19th, 2020 - Objectives: We aimed to determine the clinical and genetic characteristics of a boy diagnosed with the β-thalassemia trait. He also had hereditary spherocytosis (HS) that had been overlooked for 7 years. Methods: Blood samples collected from the p...

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Guidelines  2 results

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane ...
https://doi.org/10.1111/ijlh.12335
International Journal of Laboratory Hematology; King MJ, Garçon L et. al.

Mar 19th, 2015 - Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary stomatocytosis (HSt) are inherited red cell disorders caused by defects in various membrane proteins. The heterogeneous clinical presentation, biochemical and genetic ab...

Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update.
https://doi.org/10.1111/j.1365-2141.2011.08921.x
British Journal of Haematology; Bolton-Maggs PH, Langer JC et. al.

Nov 7th, 2011 - Guidelines on hereditary spherocytosis (HS) published in 2004 (Bolton-Maggs et al, 2004) are here replaced to reflect changes in current opinion on the surgical management, (particularly the indications for concomitant splenectomy with cholecystec...

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Clinicaltrials.gov  561 results

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese chi...
https://doi.org/10.1002/mgg3.1577
Molecular Genetics & Genomic Medicine; Xie F, Lei L et. al.

Feb 23rd, 2021 - Objective to summarize the clinical features and laboratory findings of 28 Chinese children with hereditary spherocytosis (HS), and analyze these mutations. Collected and analyzed the clinical data of all children and their parents, and completed ...

Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in ...
https://doi.org/10.1177/0009922820987110
Clinical Pediatrics; Matossian M, Warrier R et. al.

Jan 22nd, 2021 - Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series.|2021|Matossian M,Warrier R,Kattar N,|

Atypical hereditary spherocytosis phenotype associated with pseudohypokalaemia and a ne...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733106
BMJ Case Reports; Ramasamy I

Dec 10th, 2020 - Red blood cell (RBC) membrane disorders are predominantly caused by mutations resulting in decreased RBC deformability and permeability. We present a family in which, the proband and his daughter presented with pseudohypokalaemia. Studies on the t...

Open heart surgery in an infant with hereditary spherocytosis and a review of literature.
https://doi.org/10.1111/jocs.15220
Journal of Cardiac Surgery; Menon S, Saxena MS et. al.

Dec 7th, 2020 - Hemolytic anemia often challenges congenital heart surgery. Hereditary spherocytosis is a rare familial hemolytic anemia. When associated with congenital heart disease, the safe performance of cardiopulmonary bypass becomes a priority. The increas...

Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassem...
https://doi.org/10.1080/16078454.2020.1846874
Hematology (Amsterdam, Netherlands); Chen M, Ye YP et. al.

Nov 19th, 2020 - Objectives: We aimed to determine the clinical and genetic characteristics of a boy diagnosed with the β-thalassemia trait. He also had hereditary spherocytosis (HS) that had been overlooked for 7 years. Methods: Blood samples collected from the p...

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News  2 results

Blueberry Muffin Rash Secondary to Hereditary Spherocytosis
https://www.mdedge.com/dermatology/article/157898/pediatrics/blueberry-muffin-rash-secondary-hereditary-spherocytosis/page/0/1

Feb 5th, 2018 - Comment Dermal extramedullary hematopoiesis is a normal component of embryologic development up until the fifth month of gestation. 1 The term blueberry muffin rash typically is used to describe the cutaneous manifestations of extramedullary hemato.

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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