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About 192 results

ALLMedicine™ Hereditary Elliptocytosis Center

Research & Reviews  95 results

Acute lymphoblastic leukaemia in a child with hereditary elliptocytosis.
https://doi.org/10.1111/ijlh.13408
International Journal of Laboratory Hematology; Sun P, Wen R et. al.

Nov 24th, 2020 - Acute lymphoblastic leukaemia in a child with hereditary elliptocytosis.|2020|Sun P,Wen R,Bu X,Li W,Mu W,|

A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a ...
https://doi.org/10.1080/16078454.2020.1807227
Hematology (Amsterdam, Netherlands); Shin S, Hwang KA et. al.

Aug 18th, 2020 - Objectives: Hereditary elliptocytosis (HE) is inherited in an autosomal dominant fashion, and the majority of HE-associated defects occur due to qualitative and quantitative defects in the RBC membrane skeleton proteins α-spectrin, β-spectrin, or ...

A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaun...
https://doi.org/10.1097/MPH.0000000000001796
Journal of Pediatric Hematology/oncology; Suzuki T, Togawa T et. al.

Apr 14th, 2020 - Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Tar...

Hereditary Elliptocytosis 
https://emedicine.medscape.com/article/199801-print

Nov 5th, 2019 - Practice Essentials Hereditary elliptocytosis (HE) is a group of disorders of the red blood cell (RBC) membrane that are characterized by elliptical-shaped erythrocytes (elliptocytes; see the image below) and shortened RBC survival. Unlike normal ...

Hereditary Elliptocytosis Treatment & Management
https://emedicine.medscape.com/article/199801-treatment

Nov 5th, 2019 - Approach Considerations In most cases, hereditary elliptocytosis (HE) causes no symptoms and requires no therapy. For patients with clinically significant hemolytic anemia, splenectomy provides marked improvement. A diet rich in folic acid or foli...

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Guidelines  1 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...

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Clinicaltrials.gov  95 results

Acute lymphoblastic leukaemia in a child with hereditary elliptocytosis.
https://doi.org/10.1111/ijlh.13408
International Journal of Laboratory Hematology; Sun P, Wen R et. al.

Nov 24th, 2020 - Acute lymphoblastic leukaemia in a child with hereditary elliptocytosis.|2020|Sun P,Wen R,Bu X,Li W,Mu W,|

A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a ...
https://doi.org/10.1080/16078454.2020.1807227
Hematology (Amsterdam, Netherlands); Shin S, Hwang KA et. al.

Aug 18th, 2020 - Objectives: Hereditary elliptocytosis (HE) is inherited in an autosomal dominant fashion, and the majority of HE-associated defects occur due to qualitative and quantitative defects in the RBC membrane skeleton proteins α-spectrin, β-spectrin, or ...

A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaun...
https://doi.org/10.1097/MPH.0000000000001796
Journal of Pediatric Hematology/oncology; Suzuki T, Togawa T et. al.

Apr 14th, 2020 - Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Tar...

Hereditary Elliptocytosis 
https://emedicine.medscape.com/article/199801-print

Nov 5th, 2019 - Practice Essentials Hereditary elliptocytosis (HE) is a group of disorders of the red blood cell (RBC) membrane that are characterized by elliptical-shaped erythrocytes (elliptocytes; see the image below) and shortened RBC survival. Unlike normal ...

Hereditary Elliptocytosis Treatment & Management
https://emedicine.medscape.com/article/199801-treatment

Nov 5th, 2019 - Approach Considerations In most cases, hereditary elliptocytosis (HE) causes no symptoms and requires no therapy. For patients with clinically significant hemolytic anemia, splenectomy provides marked improvement. A diet rich in folic acid or foli...

see more →