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GLRX5 Mutations Impair Heme Biosynthetic Enzymes ALA Synthase 2 and Ferrochelatase in Human Congenital Sideroblastic Anemia

Molecular Genetics and Metabolism, 2019
International audienceNon-syndromic microcytic congenital sideroblastic anemia (cSA) is predominantly caused by defective genes encoding for either ALAS2, the first enzyme of heme biosynthesis pathway or SLC25A38, the mitochondrial importer of glycine ...
Zoubida Karim, Hervé Puy, Abdellah Mansouri   +2 more
exaly   +2 more sources

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Sideroblastic anemia following congenital erythroid hypoplasia

The Journal of Pediatrics, 1971
1. Drash, A., Sherman, F., Hartmann, W. H., and Blizzard, R. M.: A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease, J. P~DIAT. 76: 585, 1970. 2. Frasier, S. D., Bashore, R. A., and Mosier, H. D.: Gonadoblastoma associated with pure gonadaI dysgenesis in monozygous twins, J. PEDIAT. 64: 740, 1964.
L A, Boxer, L, Hussey, T L, Clarke
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Congenital dyserythropoietic anemia type I with ringed sideroblasts

Haematologia, 2000
A 25-year-old male with anemia, jaundice and liver dysfunction was admitted to our institution. Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells and intranuclear bridging in bone marrow aspirate and spongy, unevenly condensed ...
Soysal, T, Akun, E, Ozaras, R, Aki, H, Ozturk, M, Tuzuner, N   +5 more
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Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology

Gene, 2018
Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understanding of genetic and pathophysiologic features of CSA.
Zhangbiao, Long, Hongmin, Li, Yali, Du, Bing, Han   +3 more
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[Congenital sideroblastic anemia in an infant].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 1998
Sideroblastic anemia is rare in infants. When it occurs, it is generally hereditary and X-linked.A microcytic anemia without iron deficiency was diagnosed in a 2-month old infant with probable acquired cytomegalic infection. Bone marrow examination disclosed ringed sideroblasts without cytomegalic inclusions. Treatment with pyridoxine was tried without
J, Goedseels, J P, De Caluwé, M, Alexander   +2 more
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Congenital sideroblastic anemias.

Current hematology reports, 2006
Congenital forms of sideroblastic anemia constitute a subset of uncommon disorders within the wider spectrum of sideroblastic anemias, all of which are diagnosed by the presence of pathologic iron deposits in erythroblast mitochondria. The congenital sideroblastic anemias are heterogeneous disorders; some arise from known molecular defects but others ...
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Congenital sideroblastic anemia: Unravelling molecular pathogenesis and advancing precision therapeutics

Gene
Congenital sideroblastic anemia (CSA) is a rare and heterogeneous disorder characterized by the presence of ring sideroblasts within the bone marrow. The underlying pathogenesis of CSA is predominantly attributed to defects in three major pathways: heme biosynthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis.
Dinghui Zhao, Jichun Yang, Danchen Meng, Yuxin Li, Jian Ge, Xiaofeng Shi, Zhangbiao Long   +6 more
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Congenital sideroblastic anemia of a Saudi child.

Sudanese journal of paediatrics
Sideroblastic anemia is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow, and has congenital and acquired forms. Congenital sideroblastic anemia is a rare condition, which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2.
Muneer H, ALBagshi, Somaya H, Saloma, Hassan M, Albagshi   +2 more
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Delayed diagnosis of congenital sideroblastic anemia

Seminars in Hematology, 2018
Ghaith Abu-Zeinah, Maria T. DeSancho, Mustafa Al-Kawaaz, Julia Geyer   +3 more
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Dental management of a child with congenital sideroblastic anemia: a case report.

Pediatric dentistry, 2007
The sideroblastic anemias comprise a heterogeneous group of acquired and congenital disorders which that have in common: (1) anemia; (2) the presence of ring sideroblasts in the bone marrow; and (3) impaired heme biosynthesis. Elevation in iron levels is secondary to a deficiency in mitochondrial physiology.
Rochelle G, Lindemeyer, Erick, Goldberg, Andres, Pinto   +2 more
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