OBJECTIVE: To explore the characteristics of laboratory examination of secondary sideroblastic anemia (SA). METHODS: A retrospective analysis was conducted on the general information of a case of alcohol-induced secondary SA, and relevant domestic and foreign literature was reviewed to summarize the clinical characteristics of this disease. RESULTS: The patient was diagnosed with microcytic hypochromic anemia, with abnormal red blood cells detected, such as elliptocytes, target cells, and teardrop cells, etc. Iron overload and more than 15% of ring sideroblasts were detected by Perls' Prussian blue staining of bone marrow smear, while periodic acid-schiff (PAS) staining, EGR1 and SF3B1 gene tests were all negative, and rare genotype of Hong Kong α-thalassemia (possibly HKαα/αα or HKαα/-α^3.7) was observed. CONCLUSION Patient medical history and medication history, peripheral blood and bone marrow cytological morphology, genetic testing, cytogenetics, etc. are helpful for the diagnosis of secondary SA.
Humans ; Anemia, Sideroblastic/complications* ; alpha-Thalassemia/complications* ; Retrospective Studies ; Male

5-Aminolevulinate Synthetase/genetics* ; Anemia, Sideroblastic/genetics* ; Genetic Diseases, X-Linked/genetics* ; Humans ; Mutation

OBJECTIVE: To study the clinical features and gene mutation spectrum of children with sideroblastic anemia (SA) and the clinical value of targeted next-generation sequencing in the molecular diagnosis of children with SA. METHODS: Clinical data were collected from 36 children with SA. Targeted next-generation sequencing was used to detect mutations in SA-related pathogenic genes and genes associated with heme synthesis and mitochondrial iron metabolism. The association between genotype and clinical phenotype was analyzed. RESULTS: Of the 36 patients, 32 had congenital sideroblastic anemia (CSA) and 4 had myelodysplastic syndrome with ring sideroblasts (MDS-RS). Mutations in CSA-related genes were detected in 19 children (19/36, 53%), among whom 9 (47%) had ALAS2 mutation, 4 (21%) had SLC25A38 mutation, and 6 (32%) had mitochondrial fragment deletion. No pathogenic gene mutation was detected in 4 children with MDS-RS. Among the 19 mutations, 89% (17/19) were known mutations and 11% (2/19) were novel mutations. The novel mutation of the ALAS2 gene c.1153A>T(p.I385F) was rated as "possibly pathogenic" and the novel mutation of the SLC25A38 gene c.175C>T(p.Q59X) was rated as "pathogenic". CONCLUSIONS ALAS2 and SLC25A38 gene mutations are commonly seen in children with CSA, but mitochondrial gene fragment deletion also accounts for a relatively high proportion. For children with hypoplastic anemia occurring in infancy, mitochondrial disease should be considered.
5-Aminolevulinate Synthetase ; Anemia, Sideroblastic ; genetics ; Child ; Genetic Diseases, X-Linked ; Humans ; Mitochondrial Membrane Transport Proteins ; Mutation ; Myelodysplastic Syndromes ; Phenotype

No abstract available.
Anemia, Sideroblastic* ; High-Throughput Nucleotide Sequencing* ; Humans ; Infant* ; Male*

Anemia, Sideroblastic ; genetics ; Calreticulin ; genetics ; Humans ; Mutation ; Myelodysplastic-Myeloproliferative Diseases ; genetics ; Phosphoproteins ; genetics ; RNA Splicing Factors ; Ribonucleoprotein, U2 Small Nuclear ; genetics

Anemia, Sideroblastic ; diagnosis ; genetics ; Asian Continental Ancestry Group ; Genetic Diseases, X-Linked ; diagnosis ; genetics ; Humans ; Pedigree

No abstract available.
5-Aminolevulinate Synthetase/chemistry/*genetics ; Adult ; Anemia, Sideroblastic/*genetics/pathology ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Genetic Diseases, X-Linked/*genetics/pathology ; Hemizygote ; Humans ; Male ; Mutation, Missense ; Polymorphism, Single Nucleotide ; Republic of Korea

OBJECTIVETo raise awareness of molecular pathogenesis and treatment of congenital sideroblastic anemia (CSA).

METHODSA complete blood count and iron metabolism were detected from the proband and other members of the family. Mutation analysis was performed on the complete coding regions of ALAS2 gene by common polymerase chain reaction (PCR) using genomic DNA as a template from members the family. ALAS2 mutations were detected by direct sequencing and mutation types were confirmed by sequencing followed by plasmid cloning.

RESULTSThe proband male presented with microcytic hypochromic anemia (hemoglobin 84 g/L, mean corpuscular volume 64 fL, mean corpuscular hemoglobin 16.5 pg), and iron overload (serum iron 44.7 μmol/L, serum ferritin 3 123 μg/L and transferrin saturation 0.84). A mutation 466 A>G predicting a Lys156Glu amino acid change was identified in the proband and 3 females from the family. The proband was hemizygous for this mutation and presented with microcytic anemia and iron overload, while all 3 heterozygous females showed marginally increased red cell distribution width without any other symptoms. The proband treated with 300 mg of pyridoxine per day and iron chelation therapy with deferoxamine for one year had durable hematopoietic patients improvements, including increase in hemoglobin to 98 g/L and decrease in serum ferritin to 1 580 μg/L.

CONCLUSIONThis was a novel K156E substitution in ALAS2 gene identified in a 3-generation pedigree in China. Our findings emphasized the importance of gene based diagnosis of CSA, and CSA patient with ALAS2 mutation responded to pyridoxine treatment.

5-Aminolevulinate Synthetase ; genetics ; Adult ; Anemia, Sideroblastic ; genetics ; China ; Female ; Genetic Diseases, X-Linked ; genetics ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree

Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic stem cell disorders with different mechanisms and diverse prognosis. The excess of ring sideroblasts (RS) is an important presentation MDS, but the mechanisms of RS appearance are obscure and the treatment of MDS-RS is intractable. Splicing factors play a very important role in the maturation process of eucaryon mRNA, recent studies indicate that there is a significant causal relationship between splicing factor 3B subunit 1 (SF3B1) mutation and the presence of ring sideroblasts. Lucubrating the downstream molecular of the mutated SF3B1 can facilitate exploring the mechanisms and new therapeutic strategies of MDS-RS.
Anemia, Sideroblastic ; etiology ; genetics ; Animals ; Humans ; Mutation ; Myelodysplastic Syndromes ; complications ; genetics ; Phosphoproteins ; genetics ; RNA Splicing Factors ; Ribonucleoprotein, U2 Small Nuclear ; genetics

Although lead intoxication is commonly mentioned as a cause of sideroblastic anemia, no well-documented case exists in the literature. We encountered a patient with sideroblastic anemia caused by lead-containing herbal medicine. A 34-year-old woman was admitted to our hospital with abdominal pain. She had taken herbal medicine for her general health. Anemia, hyperbilirubinemia, and elevated lactic dehydrogenase were found from the laboratory data. Bone marrow biopsy showed pathological ringed sideroblasts. Her serum level of lead was high and the lead content of the tablet was higher than permitted. We diagnosed her with sideroblastic anemia secondary to lead poisoning caused by herbal medicine. We stopped her from taking herbal medicine and she gradually recovered from anemia.
Abdominal Pain ; Adult ; Anemia ; Anemia, Sideroblastic ; Biopsy ; Bone Marrow ; Female ; Herbal Medicine ; Humans ; Hyperbilirubinemia ; Lead Poisoning ; Oxidoreductases