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Hereditary spherocytosis

open access: yesPaediatrics and Child Health (United Kingdom), 2015
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ละอองดาว สุวรรณชมภู   +1 more
exaly   +3 more sources

Hereditary spherocytosis

open access: yesMedical Journal of Dr. D.Y. Patil University, 2014
Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia.
Meenakshi Kalyan   +3 more
doaj   +2 more sources

An overview of hereditary spherocytosis and the curative effects of splenectomy

open access: yesFrontiers in Physiology
Hereditary spherocytosis is a common hemolytic anemia with different severity. The causes of hereditary spherocytosis are mutations in genes that encode red blood cell (RBC) membrane and cytoskeletal proteins, including ankyrin-1, Band 3 (or AE1), α ...
Kyril Turpaev   +15 more
exaly   +3 more sources

Hereditary spherocytosis

open access: yesPaediatrics and Child Health (United Kingdom), 2019
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Özden Vural   +2 more
exaly   +4 more sources

Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks

open access: yesFrontiers in Pediatrics, 2023
BackgroundHereditary Spherocytosis (HS) is a rare, congenital red blood cell disorder presenting with variable clinical manifestations ranging from mild hemolytic anemia to severe anemia with hypersplenism and hepatobiliary complications.MethodsThe ...
Maria Paola Boaro   +15 more
doaj   +1 more source

Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB

open access: yesFrontiers in Genetics, 2023
Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced surface area on the peripheral blood smear.
Yafei Tian   +13 more
doaj   +1 more source

A Case of Adrenal Myelolipoma Associated with Hereditary Spherocytosis

open access: yesClinical Pediatric Hematology-Oncology, 2021
Hereditary spherocytosis is the most common hereditary red blood cell membrane disorder. It results from a deficiency in certain proteins that are part of the red blood cell membrane cytoskeleton.
Dahui Gug   +5 more
doaj   +1 more source

Hereditary Spherocytosis

open access: yesJournal of Health, Population and Nutrition, 2010
A 12-year-old girl was brought to the Dhaka Hospital of ICDDR,B with diarrhoea. Incidentally, the parents provided a history of repeated episodes of pallor and jaundice since she was two and half years old. Three of her family members had similar problems.
Huq, Sayeeda   +3 more
openaire   +6 more sources

Fulminant Haemolysis Following Endoscopic Retrograde Cholangiopancreatography

open access: yesEuropean Journal of Case Reports in Internal Medicine, 2021
We report the case of a 77-year-old-man with a history of type 2 diabetes mellitus who underwent endoscopic retrograde cholangiopancreatography (ERCP) because of a gallstone in the common bile duct.
Mário Bibi   +4 more
doaj   +1 more source

Facilitating EMA binding test performance using fluorescent beads combined with next‐generation sequencing

open access: yeseJHaem, 2021
The eosin‐5′‐maleimide (EMA) binding test is widely used as diagnostic test for hereditary spherocytosis (HS), one of the most common haemolytic disorders in Caucasian populations.
Andreas Glenthøj   +5 more
doaj   +1 more source

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