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56 results

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Page 1
Laboratory Approach to Hemolytic Anemia.
Jamwal M, Sharma P, Das R. Jamwal M, et al. Indian J Pediatr. 2020 Jan;87(1):66-74. doi: 10.1007/s12098-019-03119-8. Epub 2019 Dec 10. Indian J Pediatr. 2020. PMID: 31823208 Review.
Inherited hemolytic anemia: a possessive beginner's guide.
Mohandas N. Mohandas N. Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):377-381. doi: 10.1182/asheducation-2018.1.377. Hematology Am Soc Hematol Educ Program. 2018. PMID: 30504335 Free PMC article. Review.
Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas al …
Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic a …
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
Da Costa L, Galimand J, Fenneteau O, Mohandas N. Da Costa L, et al. Blood Rev. 2013 Jul;27(4):167-78. doi: 10.1016/j.blre.2013.04.003. Epub 2013 May 9. Blood Rev. 2013. PMID: 23664421 Review.
Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. ...Defects in various proteins involved in linking the lipid bilayer …
Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutat …
Advances in understanding the pathogenesis of red cell membrane disorders.
Iolascon A, Andolfo I, Russo R. Iolascon A, et al. Br J Haematol. 2019 Oct;187(1):13-24. doi: 10.1111/bjh.16126. Epub 2019 Jul 31. Br J Haematol. 2019. PMID: 31364155 Free article. Review.
Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. ...Red blood cell membrane defects encompass a heterogeneous group of haemolytic anaemias caused by either (i) altered mem …
Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of …
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W. Fattizzo B, et al. Orphanet J Rare Dis. 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. Orphanet J Rare Dis. 2021. PMID: 34627331 Free PMC article. Review.
These rare and heterogeneous conditions may generate several difficulties from the diagnostic point of view. Membrane defects include hereditary spherocytosis and elliptocytosis, and the group of hereditary stomatocytosis; glucose-6-phosphate dehydrogenase an …
These rare and heterogeneous conditions may generate several difficulties from the diagnostic point of view. Membrane defects include her …
Protein 4.1 and the control of ion channels.
Baines AJ, Bennett PM, Carter EW, Terracciano C. Baines AJ, et al. Blood Cells Mol Dis. 2009 May-Jun;42(3):211-5. doi: 10.1016/j.bcmd.2009.01.016. Epub 2009 Mar 9. Blood Cells Mol Dis. 2009. PMID: 19272819 Review.
In epithelia, 4.1 interacts with the store-operated channel TRPC4. In neurons, the ligand-gated channels GluR1 and GluR4 require 4.1 proteins for cell surface accumulation. The spectrum of transmembrane proteins that bind to 4.1 proteins overlaps with that of …
In epithelia, 4.1 interacts with the store-operated channel TRPC4. In neurons, the ligand-gated channels GluR1 and GluR4 require 4. …
Hereditary elliptocytosis: spectrin and protein 4.1R.
Gallagher PG. Gallagher PG. Semin Hematol. 2004 Apr;41(2):142-64. doi: 10.1053/j.seminhematol.2004.01.003. Semin Hematol. 2004. PMID: 15071791 Review.
Hereditary elliptocytosis (HE) is a common disorder of erythrocyte shape, occurring especially in individuals of African and Mediterranean ancestry, presumably because elliptocytes confer some resistance to malaria. The principle lesion in HE is mechanical weakness …
Hereditary elliptocytosis (HE) is a common disorder of erythrocyte shape, occurring especially in individuals of African and M …
Glycophorin A: Band 3 aid.
Williamson RC, Toye AM. Williamson RC, et al. Blood Cells Mol Dis. 2008 Jul-Aug;41(1):35-43. doi: 10.1016/j.bcmd.2008.01.001. Epub 2008 Mar 4. Blood Cells Mol Dis. 2008. PMID: 18304844 Review.
B3 mutations generally lead to red blood cell (RBC) specific disease (hereditary spherocytosis (HS), Southeast Asian Ovalocytosis or hereditary stomatocytosis) or kidney disease (distal Renal Tubular Acidosis--dRTA). ...
B3 mutations generally lead to red blood cell (RBC) specific disease (hereditary spherocytosis (HS), Southeast Asian Ovalocytosis or …
A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
Shih YH, Huang YC, Lin CY, Lin HY, Kuo SF, Lin JS, Shen MC. Shih YH, et al. Medicine (Baltimore). 2023 Jan 27;102(4):e32708. doi: 10.1097/MD.0000000000032708. Medicine (Baltimore). 2023. PMID: 36705355 Free PMC article. Review.
Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally. ...OUTCOMES: The two patients had normal daily activities and lives. LESSONS: We reported two Taiwanese families, one was hereditary spherocytosis affected by …
Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally. ...OUTCOMES: The two pati …
56 results