scholarly journals SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature

2021 ◽  
Author(s):  
Matthew M. Heeney ◽  
Simon Berhe ◽  
Dean R. Campagna ◽  
Joseph H. Oved ◽  
Peter Kurre ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Novel Mutations ◽  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

scholarly journals SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature

2021 ◽  
Author(s):  
Matthew Heeney ◽  
Simon Berhe ◽  
Dean Campagna ◽  
Joseph Oved ◽  
Peter Kurre ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Transmembrane Domains ◽  
Missense Mutations ◽  
Review Of The Literature ◽  
Novel Mutations ◽  
Inherited Disorders ◽  
Sideroblastic Anemia ◽  
Recessive Form ◽  
Different Populations ◽  
Congenital Sideroblastic Anemia

The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Here we describe the clinical phenotype and genotypes of 31 individuals from 24 families, including 11 novel mutations. We also review the spectrum of reported mutations and genotypes associated with the disease, describe the unique localization of missense mutations in transmembrane domains and account for the reoccurrence of several alleles in different populations.

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.

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