A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review

2017 ◽  
Vol 96 (11) ◽  
pp. 1955-1957 ◽  
Author(s):  
Tohru Fujiwara ◽  
Noriko Fukuhara ◽  
Satoshi Ichikawa ◽  
Masahiro Kobayashi ◽  
Yoko Okitsu ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Myelodysplastic Syndrome ◽  
Sideroblastic Anemia ◽  
Ring Sideroblasts

scholarly journals Myelodysplastic syndrome with clonal karyotype evolution associated with trisomy 8 and ASXL1 mutation in well‐controlled HIV patient: Case report and literature review

eJHaem ◽  
2020 ◽  
Vol 1 (1) ◽  
pp. 344-349
Author(s):  
Daniela Palheiro Mendes‐de‐Almeida ◽  
Viviane Lamim Lovatel ◽  
Filipe Vicente Santos‐Bueno ◽  
Elaiza Almeida Antônio Kós ◽  
Francianne Gomes Andrade ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Myelodysplastic Syndrome ◽  
Karyotype Evolution ◽  
Patient Case ◽  
Trisomy 8

scholarly journals Donor cell myelodysplastic syndrome after allogeneic stem cell transplantation responding to donor lymphocyte infusion: Case report and literature review

2004 ◽  
Vol 76 (4) ◽  
pp. 389-394 ◽  
Author(s):  
Rami Komrokji ◽  
Jainulabdeen J. Ifthikharuddin ◽  
Raymond E. Felgar ◽  
Camille N. Abboud ◽  
Lucy A. Wedow ◽  
...  
Keyword(s):  
Stem Cell ◽  
Case Report ◽  
Literature Review ◽  
Stem Cell Transplantation ◽  
Myelodysplastic Syndrome ◽  
Cell Transplantation ◽  
Allogeneic Stem Cell Transplantation ◽  
Donor Cell ◽  
Donor Lymphocyte Infusion

Sinusitis caused by Exserohilum rostratum after cord blood transplantation for myelodysplastic syndrome: A case report and literature review

2017 ◽  
Vol 20 (1) ◽  
pp. e12805 ◽  
Author(s):  
Sumiko Kohashi ◽  
Takaaki Toyama ◽  
Norisato Hashimoto ◽  
Masatoshi Sakurai ◽  
Jun Kato ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Myelodysplastic Syndrome ◽  
Cord Blood ◽  
Cord Blood Transplantation ◽  
Blood Transplantation ◽  
Exserohilum Rostratum

scholarly journals The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Shiqiu Xiong ◽  
Yang Jia ◽  
Shijun Li ◽  
Peng Huang ◽  
Jie Xiong ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Motor Development ◽  
Symptom Onset ◽  
Gene Mutations ◽  
Chinese Family ◽  
Inherited Disease ◽  
Sideroblastic Anemia ◽  
Chinese Origin ◽  
First Case

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide. We present the first Chinese family of XLSA/A with novel ABCB7 gene mutation (c.2024A > G) and make a retrospective literature review. All affected patients were male. Age of symptom onset was <2 years old. The main symptoms included ataxia, delay in motor development, and mild sideroblastic anemia with obviously increased erythrocyte protoporphyrin. In this case, he had new symptoms that had not been reported in other cases such as epilepsy and cryptorchidism. We also discuss the possible molecular mechanism linking ABCB7 gene mutations to sideroblastic anemia and ataxia.

scholarly journals Acute pro‑B‑Cell lymphoblastic leukemia transformed from myelodysplastic syndrome with an ASXL1 missense mutation: A case report with literature review

2018 ◽  
Author(s):  
Zhi‑Ping Guo ◽  
Yan‑Hong Tan ◽  
Jian‑Lan Li ◽  
Zhi‑Fang Xu ◽  
Xiu‑Hua Chen ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Myelodysplastic Syndrome ◽  
B Cell ◽  
Missense Mutation ◽  
Lymphoblastic Leukemia

scholarly journals A case of subacute-onset myelodysplastic syndrome with infection mimicking thrombotic thrombocytopenic purpura: a case report with literature review

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Masahiro Okabe ◽  
Daisuke Nakashima ◽  
Nanae Matsuo ◽  
Yukio Maruyama ◽  
Takashi Yokoo
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Myelodysplastic Syndrome ◽  
Thrombotic Thrombocytopenic Purpura ◽  
Thrombocytopenic Purpura

Double minute chromosomes and myelodysplastic syndrome: A case report and literature review

1997 ◽  
Vol 97 (2) ◽  
pp. 94-96 ◽  
Author(s):  
Yi-Kong Keung ◽  
Everardo Cobos ◽  
David Morgan ◽  
Robert P. Whitehead ◽  
Vijay Tonk
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Myelodysplastic Syndrome ◽  
Double Minute ◽  
Double Minute Chromosomes

scholarly journals Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing

Hematology ◽  
2015 ◽  
Vol 2015 (1) ◽  
pp. 19-25 ◽  
Author(s):  
Mario Cazzola ◽  
Luca Malcovati
Keyword(s):  
Myelodysplastic Syndrome ◽  
Rna Splicing ◽  
Transforming Growth Factor ◽  
Microcytic Anemia ◽  
Refractory Anemia ◽  
Ineffective Erythropoiesis ◽  
Sideroblastic Anemia ◽  
Allogenic Stem Cell Transplantation ◽  
Heme Synthesis ◽  
Ring Sideroblasts

AbstractThe sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by the presence of ring sideroblasts in the bone marrow. X-linked sideroblastic anemia (XLSA) is caused by germline mutations in ALAS2. Hemizygous males have a hypochromic microcytic anemia, which is generally mild to moderate and is caused by defective heme synthesis and ineffective erythropoiesis. XLSA is a typical iron-loading anemia; although most patients are responsive to pyridoxine, treatment of iron overload is also important in the management of these patients. Autosomal recessive sideroblastic anemia attributable to mutations in SLC25A38, a member of the mitochondrial carrier family, is a severe disease: patients present in infancy with microcytic anemia, which soon becomes transfusion dependent. Conservative therapy includes regular red cell transfusion and iron chelation, whereas allogenic stem cell transplantation represents the only curative treatment. Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome characterized mainly by anemia attributable to ineffective erythropoiesis. The clinical course of RARS is generally indolent, but there is a tendency to worsening of anemia over time, so that most patients become transfusion dependent in the long run. More than 90% of these patients carry somatic mutations in SF3B1, a gene encoding a core component of the RNA splicing machinery. These mutations cause misrecognition of 3′ splice sites in downstream genes, resulting in truncated gene products and/or decreased expression attributable to nonsense-mediated RNA decay; this explains the multifactorial pathogenesis of RARS. Variants of RARS include refractory cytopenia with multilineage dysplasia and ring sideroblasts, and RARS associated with marked thrombocytosis; these variants involve additional genetic lesions. Inhibitors of molecules of the transforming growth factor-β superfamily have been shown recently to target ineffective erythropoiesis and ameliorate anemia both in animal models of myelodysplastic syndrome and in RARS patients.

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