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Genotype-phenotype correlation in children with hereditary spherocytosis.
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD. Tole S, et al. Br J Haematol. 2020 Nov;191(3):486-496. doi: 10.1111/bjh.16750. Epub 2020 May 20. Br J Haematol. 2020. PMID: 32436265 Free article.
Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell membrane proteins. ...Patients with ANK1 and SPTB variants showed a similar clinical phenotype. Within each gene, variant type or loca …
Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell m …
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis.
Danise P, Amendola G, Nobili B, Perrotta S, Miraglia Del Giudice E, Matarese SM, Iolascon A, Brugnara C. Danise P, et al. Clin Lab Haematol. 2001 Feb;23(1):7-13. doi: 10.1046/j.1365-2257.2001.00354.x. Clin Lab Haematol. 2001. PMID: 11422224
Congenital dyserythropoietic anaemia type II (CDA II) is the most common congenital dyserythropoietic anaemia. CDA II is frequently misdiagnosed as Hereditary Spherocytosis (HS) due to the presence of mild chronic haemolytic anaemia with splenomegaly, increas …
Congenital dyserythropoietic anaemia type II (CDA II) is the most common congenital dyserythropoietic anaemia. CDA II is frequently m …