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

INTRODUCTION: Haemoglobinopathy testing is performed for carrier screening and evaluation of microcytic anaemia. We evaluated the effectiveness of thalassaemia screening tests at our institution and suggest ways of improving the testing algorithm. MATERIALS AND METHODS: A total of 10,084 non-antenatal and 11,364 antenatal samples with alkaline gel electrophoresis (AGE), capillary electrophoresis (CE), haemoglobin H (HbH) inclusion test, mean corpuscular haemoglobin (MCH) and mean corpuscular volume (MCV) were retrospectively reviewed. A subgroup of 187 samples with genetic testing was correlated with HbH inclusions and MCH/ MCV. The effect of iron deficiency on percentage hemoglobin A2 (HbA2) was studied. RESULTS: HbH inclusion test showed low sensitivity of 21.43% for α-thalassaemia mutations but higher sensitivity of 78.95% for deletion. By receiver operating characteristic (ROC) analysis, MCH ≤28 pg or MCV ≤80 fl for non-antenatal samples and MCH ≤27 pg or MCV ≤81 fl for antenatal samples had >98% sensitivity for HbH inclusions. Above these thresholds, the probability that HbH inclusions would be absent was <99% (negative predictive value [NPV] >99%). MCH ≥28 pg had 100% sensitivity (95% CI 95.63%-100%) for α-thalassaemia mutations and 97.68% calculated NPV in the antenatal population. Detection of haemoglobin variants by CE correlated highly with AGE (99.89% sensitivity, 100% specificity). Severe iron deficiency reduced HbA2 in hemoglobin ( <0.001) and α-thalassaemia ( = 0.0035), but not in β-thalassaemia. CONCLUSION MCH/MCV thresholds have adequate sensitivity for α-thalassaemia in the antenatal population, and genotyping plays an important role as HbH inclusion test shows low sensitivity. CE without AGE, may be used as initial screening for haemoglobin variants. Our study provides contemporary data to guide thalassaemia screening algorithms in Singapore.
Blood Protein Electrophoresis ; Electrophoresis, Capillary ; Erythrocyte Inclusions ; pathology ; Erythrocyte Indices ; Female ; Genetic Testing ; Hemoglobin H ; analysis ; Humans ; Male ; Mass Screening ; Pregnancy ; Pregnancy Complications, Hematologic ; blood ; diagnosis ; Retrospective Studies ; Sensitivity and Specificity ; Singapore ; alpha-Thalassemia ; blood ; diagnosis

: Fetal hydrops is a serious condition which can be caused by immune and non-immune aetiologies. We aimed to review the management of fetal hydrops at our hospital.: A retrospective review of all cases of fetal hydrops diagnosed in our institution from 2006 to 2013 was carried out.: Out of the 30 cases of fetal hydrops diagnosed antenatally, 17 were cases of Bart's hydrops which were all terminated in-utero. Of the remaining 13 cases, 11 cases consisted of non-immune causes of hydrops. Planned antenatal interventions including in-utero blood transfusions (n = 4) and thoracentesis (n = 5) as well as planned caesarean deliveries (n = 11) were performed in the majority of cases. Postnatal neonatal intensive care with interventions including chest drainage and transfusions were also performed. A majority, 92%, of the cases survived the perinatal period following a variable length of hospital stay ranging from a week to 3 months.: Management of fetal hydrops is complex. Close coordination between the obstetric and neonatal teams was the key to good short-term survival of neonates with antenatally diagnosed hydrops, as it allows timely antenatal intervention and anticipation of potential perinatal complications.
Abortion, Induced ; Blood Transfusion ; Cesarean Section ; Disease Management ; Drainage ; Female ; Fetal Therapies ; Hemoglobins, Abnormal ; Humans ; Hydrops Fetalis ; blood ; etiology ; therapy ; Infant, Newborn ; Intensive Care Units, Neonatal ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Singapore ; Survival Rate ; Tertiary Care Centers ; Thoracentesis ; alpha-Thalassemia ; blood ; complications

Hemoglobins, Abnormal ; Humans ; alpha-Thalassemia ; complications ; beta-Thalassemia ; complications

Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers.
Amino Acid Substitution ; Body Dysmorphic Disorders/complications ; Child, Preschool ; DNA Mutational Analysis ; Epilepsy/complications ; Exons ; Hemoglobin H/*genetics ; Humans ; Male ; Mental Retardation/complications ; Mental Retardation, X-Linked/complications/diagnosis/genetics ; Point Mutation ; Republic of Korea ; alpha-Thalassemia/complications/diagnosis/genetics

OBJECTIVETo analyze the relation between the genotype and phenotype in a Chinese patient with thalassemia intermedia and its implications for prenatal diagnosis and genetic counseling of thalassemia intermedia caused by co-existence of Hb H disease and beta; thalassemia major.

METHODSPhenotypic analysis was performed using standard hematological tests to measure red blood cell parameters and Hb concentration. Genotyping of beta thalassemia mutations and alpha thalassemia deletion were conducted using reverse dot-blot (RDB) assay and gap-PCR, respectively. We investigated the pathogenesis of this case by genotype-phenotype correlation analysis based on screening of the patient's family members. Prenatal diagnosis for a high-risk fetus in this family was performed by amniotic fluid DNA analysis.

RESULTSThe proband was identified as a patient with severe thalassemia intermedia caused by co-existence of Hb H disease (--(SEA)/-alpha (4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T), whose father was heterozygous for beta thalassemia (beta (CD17A)>T/beta (N)) and alpha-thalassemia trait (--(SEA)/) and the heterozygous for beta thalassemia (beta (IVS2-654C)>T / beta (N)) and silent alpha-thalassemia (-alpha (4.2)/). The result of prenatal diagnosis showed co-existence of beta thalassemia major and silent alpha thalassemia in the high-risk fetus, and the parents requested termination of pregnancy after genetic counseling.

CONCLUSIONWe report for the first time a rare thalassemia intermedia case resulting from 4 complex alpha/beta thalassemia combination and the molecular pathogenesis of thalassemia intermedia is updated in the Chinese population. The practice of prenatal diagnosis in this case may also provide reference for diagnosis of similar cases.

Adult ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Nucleic Acid Hybridization ; methods ; Phenotype ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; alpha-Thalassemia ; complications ; diagnosis ; genetics ; beta-Thalassemia ; complications ; diagnosis ; genetics

OBJECTIVETo report 7 cases of acquired hemoglobin H in myelodysplastic syndromes.

CASE DATA AND DISCUSSIONClinical materials of the 7 cases were retrospectively presented. Clinical features of the similar cases in literatures were reviewed. The criteria for diagnosis of this entity by Steensma and its pathogenesis were discussed.

CONCLUSIONThis entity is a new subtype of MDS with unique clinical features and pathogenesis, and might be a proper model in the study of MDS transformation.

Adult ; Female ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; complications ; alpha-Thalassemia ; complications