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About 1,110 results

ALLMedicine™ Hereditary Spherocytosis Center

Research & Reviews  553 results

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...

Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666488
BMC Medical Genetics; Chai S, Jiao R et. al.

Nov 14th, 2020 - Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral blood. Clinical manifestations of HS ar...

Haemolytic crisis of hereditary spherocytosis.
https://doi.org/10.1136/postgradmedj-2020-138990
Postgraduate Medical Journal; Matsuura H, Shiraishi Y

Nov 13th, 2020 - Haemolytic crisis of hereditary spherocytosis.|2020|Matsuura H,Shiraishi Y,|

Characterization of hereditary red blood cell membranopathies using combined targeted n...
https://doi.org/10.1007/s12185-020-03010-9
International Journal of Hematology; Vives-Corrons JL, Krishnevskaya E et. al.

Oct 19th, 2020 - Hereditary red blood cell (RBC) membranopathies are characterized by mutations in genes encoding skeletal proteins that alter the membrane complex structure. Hereditary spherocytosis (HS) is the most common inherited RBC membranopathy leading to h...

Bilateral macular hemorrhage in a patient with COVID-19.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546668
American Journal of Ophthalmology Case Reports; D'Aloisio R, Nasillo V et. al.

Oct 19th, 2020 - We report a case of a patient with a known hereditary spherocytosis who developed a bilateral macular hemorrhage in concurrence with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-related respiratory syndrome. Blood tests showed seve...

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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  553 results

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...

Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666488
BMC Medical Genetics; Chai S, Jiao R et. al.

Nov 14th, 2020 - Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral blood. Clinical manifestations of HS ar...

Haemolytic crisis of hereditary spherocytosis.
https://doi.org/10.1136/postgradmedj-2020-138990
Postgraduate Medical Journal; Matsuura H, Shiraishi Y

Nov 13th, 2020 - Haemolytic crisis of hereditary spherocytosis.|2020|Matsuura H,Shiraishi Y,|

Characterization of hereditary red blood cell membranopathies using combined targeted n...
https://doi.org/10.1007/s12185-020-03010-9
International Journal of Hematology; Vives-Corrons JL, Krishnevskaya E et. al.

Oct 19th, 2020 - Hereditary red blood cell (RBC) membranopathies are characterized by mutations in genes encoding skeletal proteins that alter the membrane complex structure. Hereditary spherocytosis (HS) is the most common inherited RBC membranopathy leading to h...

Bilateral macular hemorrhage in a patient with COVID-19.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546668
American Journal of Ophthalmology Case Reports; D'Aloisio R, Nasillo V et. al.

Oct 19th, 2020 - We report a case of a patient with a known hereditary spherocytosis who developed a bilateral macular hemorrhage in concurrence with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-related respiratory syndrome. Blood tests showed seve...

see more →

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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