A synonymous coding variant that alters ALAS2 splicing and causes X‐linked sideroblastic anemia

2021 ◽  
Author(s):  
Jamie Heather Oakley ◽  
Dean R. Campagna ◽  
Liang Sun ◽  
Shira Rockowitz ◽  
Piotr Sliz ◽  
...  
Keyword(s):  
Sideroblastic Anemia

Late-onset X-linked sideroblastic anemia following hemodialysis

Blood ◽  
2003 ◽  
Vol 101 (11) ◽  
pp. 4623-4624 ◽  
Author(s):  
Kazumichi Furuyama ◽  
Hideo Harigae ◽  
Chiharu Kinoshita ◽  
Toshihiko Shimada ◽  
Kazuko Miyaoka ◽  
...  
Keyword(s):  
Biosynthetic Pathway ◽  
Late Onset ◽  
The Elderly ◽  
Nutritional Deficiencies ◽  
Maintenance Hemodialysis ◽  
Sideroblastic Anemia ◽  
Ringed Sideroblasts ◽  
Aminolevulinate Synthase ◽  
Deficient Activity

Abstract X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroid-specific 5-aminolevulinate synthase (ALAS2). We report here a patient who developed sideroblastic anemia at the age of 81 years while undergoing hemodialysis. The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely eliminated the ringed sideroblasts. We identified a novel point mutation in the fifth exon of this patient's ALAS2 gene, which resulted in an amino acid change at residue 159 from aspartic acid to asparagine (Asp159Asn). In vitro analyses of recombinant Asp159Asn ALAS2 revealed that this mutation accounted for the pyridoxine-responsiveness of this disease. The very late onset in this case of XLSA emphasizes that nutritional deficiencies caused either by dietary irregularities in the elderly or, as in this case, by maintenance hemodialysis therapy, may uncover occult inherited enzymatic deficiencies in the heme biosynthetic pathway.

Acquired idiopathic sideroblastic anemia: A new chromosomal abnormality

1983 ◽  
Vol 9 (4) ◽  
pp. 341-345 ◽  
Author(s):  
Philip Schulman ◽  
Nataline Kardon ◽  
Robert Weiner ◽  
Vincent Vinciguerra ◽  
Daniel R. Budman ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Sideroblastic Anemia

scholarly journals Pyrazinamide-induced sideroblastic anemia

2011 ◽  
Vol 87 (3) ◽  
pp. 305-305 ◽  
Author(s):  
Giuseppe Colucci ◽  
Tobias Silzle ◽  
Max Solenthaler
Keyword(s):  
Sideroblastic Anemia

scholarly journals A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

2016 ◽  
Vol 91 (3) ◽  
pp. 441-447 ◽  
Author(s):  
A. Torraco ◽  
M. Bianchi ◽  
D. Verrigni ◽  
V. Gelmetti ◽  
L. Riley ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Clinical Phenotype ◽  
Novel Mutation ◽  
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 Sideroblastic anemia terminating in chronic myeloid leukemia

1997 ◽  
Vol 54 (1) ◽  
pp. 89-90
Author(s):  
E. Bandieri ◽  
C. Di Donato ◽  
F. Artioli ◽  
C. Carapezzi ◽  
M. Luppi ◽  
...  
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Sideroblastic Anemia
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