scholarly journals Pathophysiology and genetic mutations in congenital sideroblastic anemia

2013 ◽  
Vol 55 (6) ◽  
pp. 675-679 ◽  
Author(s):  
Tohru Fujiwara ◽  
Hideo Harigae
Keyword(s):  
Genetic Mutations ◽  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

scholarly journals Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Haematologica ◽  
2018 ◽  
Vol 103 (12) ◽  
pp. e561-e563 ◽  
Author(s):  
Simon Berhe ◽  
Matthew M. Heeney ◽  
Dean R. Campagna ◽  
John F. Thompson ◽  
Eric J. White ◽  
...  
Keyword(s):  
Clinical Severity ◽  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

scholarly journals Congenital sideroblastic anemia in a female

2018 ◽  
Vol 93 (9) ◽  
pp. 1181-1182
Author(s):  
Sophie Hanina ◽  
Barbara J. Bain ◽  
Barnaby Clark ◽  
D. Mark Layton
Keyword(s):  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

scholarly journals GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia

2019 ◽  
Vol 128 (3) ◽  
pp. 342-351 ◽  
Author(s):  
Raêd Daher ◽  
Abdellah Mansouri ◽  
Alain Martelli ◽  
Sophie Bayart ◽  
Hana Manceau ◽  
...  
Keyword(s):  
Biosynthetic Enzymes ◽  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

scholarly journals A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Blood ◽  
2013 ◽  
Vol 122 (1) ◽  
pp. 112-123 ◽  
Author(s):  
Daniel H. Wiseman ◽  
Alison May ◽  
Stephen Jolles ◽  
Philip Connor ◽  
Colin Powell ◽  
...  
Keyword(s):  
Bone Marrow ◽  
B Cell ◽  
Developmental Delay ◽  
Bone Marrow Transplant ◽  
Marrow Transplant ◽  
Clinical Syndrome ◽  
Sideroblastic Anemia ◽  
Key Points ◽  
Congenital Sideroblastic Anemia

Key Points A novel clinical syndrome of CSA, B-cell immunodeficiency, periodic fevers, and developmental delay is described. Bone marrow transplant resulted in complete and durable resolution of the hematologic and immunologic manifestations.

scholarly journals Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia

2020 ◽  
Vol 130 (10) ◽  
pp. 5245-5256
Author(s):  
Andrew Crispin ◽  
Chaoshe Guo ◽  
Caiyong Chen ◽  
Dean R. Campagna ◽  
Paul J. Schmidt ◽  
...  
Keyword(s):  
Sideroblastic Anemia ◽  
Iron Sulfur Cluster ◽  
Sulfur Cluster ◽  
Iron Sulfur ◽  
Congenital Sideroblastic Anemia

scholarly journals A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Blood ◽  
2016 ◽  
Vol 128 (15) ◽  
pp. 1913-1917 ◽  
Author(s):  
Daniel A. Lichtenstein ◽  
Andrew W. Crispin ◽  
Anoop K. Sendamarai ◽  
Dean R. Campagna ◽  
Klaus Schmitz-Abe ◽  
...  
Keyword(s):  
Sideroblastic Anemia ◽  
Respiratory Complex ◽  
Key Points ◽  
Congenital Sideroblastic Anemia

Key Points A recurring mutation in NDUFB11 causes congenital sideroblastic anemia. The NDUFB11 p.93del mutation impairs erythroid proliferation, but not differentiation.

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