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About 1,150 results

ALLMedicine™ Hereditary Spherocytosis Center

Research & Reviews  573 results

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
https://doi.org/10.1002/mgg3.1641
Molecular Genetics & Genomic Medicine; Nieminen TT, Liyanarachchi S et. al.

May 4th, 2021 - We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS). Genome-wide linkage, whole-genome sequencing (WGS), Sanger sequencing, RT-PCR, and ToPO TA cloning analyses were performed. We revealed a...

Acute human parvovirus B19 infection triggers immune-mediated transient bone marrow fai...
https://doi.org/10.1111/bjh.17484
British Journal of Haematology; Elbadry MI, Khaled SAA et. al.

Apr 26th, 2021 - A total of 244 patients with hereditary haemolytic anaemias (HHA) were screened for acute symptomatic human parvovirus B19 infection (HPV-B19) in a prospective study. To assess the risks associated with HPV-B19 infection, patients were classified ...

Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB g...
https://doi.org/10.1097/MD.0000000000024804
Medicine Zhang Y, Shao S et. al.

Mar 25th, 2021 - The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence...

Vasculo-toxic and pro-inflammatory action of unbound haemoglobin, haem and iron in tran...
https://doi.org/10.1111/bjh.17361
British Journal of Haematology; Vinchi F, Sparla R et. al.

Mar 16th, 2021 - Increasing evidence suggests that free haem and iron exert vasculo-toxic and pro-inflammatory effects by activating endothelial and immune cells. In the present retrospective study, we compared serum samples from transfusion-dependent patients wit...

Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocyto...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948326
BMC Medical Genomics; Xie L, Xing Z et. al.

Mar 12th, 2021 - To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects. Many different mutations r...

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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  573 results

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
https://doi.org/10.1002/mgg3.1641
Molecular Genetics & Genomic Medicine; Nieminen TT, Liyanarachchi S et. al.

May 4th, 2021 - We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS). Genome-wide linkage, whole-genome sequencing (WGS), Sanger sequencing, RT-PCR, and ToPO TA cloning analyses were performed. We revealed a...

Acute human parvovirus B19 infection triggers immune-mediated transient bone marrow fai...
https://doi.org/10.1111/bjh.17484
British Journal of Haematology; Elbadry MI, Khaled SAA et. al.

Apr 26th, 2021 - A total of 244 patients with hereditary haemolytic anaemias (HHA) were screened for acute symptomatic human parvovirus B19 infection (HPV-B19) in a prospective study. To assess the risks associated with HPV-B19 infection, patients were classified ...

Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB g...
https://doi.org/10.1097/MD.0000000000024804
Medicine Zhang Y, Shao S et. al.

Mar 25th, 2021 - The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence...

Vasculo-toxic and pro-inflammatory action of unbound haemoglobin, haem and iron in tran...
https://doi.org/10.1111/bjh.17361
British Journal of Haematology; Vinchi F, Sparla R et. al.

Mar 16th, 2021 - Increasing evidence suggests that free haem and iron exert vasculo-toxic and pro-inflammatory effects by activating endothelial and immune cells. In the present retrospective study, we compared serum samples from transfusion-dependent patients wit...

Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocyto...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948326
BMC Medical Genomics; Xie L, Xing Z et. al.

Mar 12th, 2021 - To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects. Many different mutations r...

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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