OBJECTIVES: To explore the risk factors for hemorrhagic cystitis (HC) in children with β-thalassemia major (TM) undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). METHODS: A retrospective analysis was conducted on clinical data of 247 children with TM who underwent allo-HSCT at Shenzhen Children's Hospital from January 2021 to November 2022. The children were divided into an HC group (91 cases) and a non-HC group (156 cases) based on whether HC occurred after operation. Multivariable logistic regression analysis was used to explore the risk factors for HC, and the receiver operating characteristic curve was used to analyze the predictive efficacy of related factors for HC. RESULTS: Among the 247 TM patients who underwent allo-HSCT, the incidence of HC was 36.8% (91/247). Univariate analysis showed age, incompatible blood types between donors and recipients, occurrence of acute graft-versus-host disease (aGVHD), positive urine BK virus deoxyribonucleic acid (BKV-DNA), and ≥2 viral infections were associated with the development of HC after allo-HSCT (P<0.05). Multivariable analysis revealed that incompatible blood types between donors and recipients (OR=3.171, 95%CI: 1.538-6.539), occurrence of aGVHD (OR=2.581, 95%CI: 1.125-5.918), and positive urine BKV-DNA (OR=21.878, 95%CI: 9.633-49.687) were independent risk factors for HC in children with TM who underwent allo-HSCT. The receiver operating characteristic curve analysis showed that positive urine BKV-DNA alone or in combination with two other risk factors (occurrence of aGVHD, incompatible blood types between donors and recipients) had a certain accuracy in predicting the development of HC after allo-HSCT (area under the curve >0.8, P<0.05). CONCLUSIONS Incompatible blood types between donors and recipients, occurrence of aGVHD, and positive urine BKV-DNA are risk factors for HC after allo-HSCT in children with TM. Regular monitoring of urine BKV-DNA has a positive significance for early diagnosis and treatment of HC.
Humans ; Child ; Retrospective Studies ; beta-Thalassemia/therapy* ; Cystitis/epidemiology* ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Risk Factors ; Hemorrhage/etiology* ; Graft vs Host Disease/complications* ; DNA ; Polyomavirus Infections/epidemiology*

OBJECTIVE: To investigate the difference of therapeutic effects on children with thalassemia at different age after hematopoietic stem cell transplantation. METHODS: The clinical data of children with thalassemia treated in our hospital were retrospectively analyzed. The children were divided into 2-5 years old group and 6-12 years old group. The success rate of implantation, transplant-related mortality, GVHD incidence, and other transplant-related complications, as well as thalassemia-free survival (TFS) were compared between the two groups. RESULTS: The incidence of GVHD, hemorrhagic cystitis and severe oral mucositis after transplantation in the 2-5 years old group were significantly lower than those in the 6-12 years old group, while there was no statistically significant difference in the TFS between the two groups. CONCLUSION Children in the low age (2-5 years old) group show fewer complications and higher quality of life after transplantation, therefore, stem cell transplantation at 2-5 years old is more conducive to rehabilitation of the children with thalassemia.
Child ; Child, Preschool ; Graft vs Host Disease/complications* ; Hematopoietic Stem Cell Transplantation ; Humans ; Quality of Life ; Retrospective Studies ; Thalassemia/therapy* ; beta-Thalassemia/therapy*

Objective: To investigate the characteristics, risk factors and outcomes of thalassemia major (TM) children with pericardial effusion (PE) after allo-geneic hematopoietic stem cell transplantation (allo-HSCT). Methods: Clinical data of 446 TM children received allo-HSCT at Shenzhen Children's Hospital between January 2012 and December 2020 were analyzed retrospectively. Patients were divided into PE and non-PE group according to the occurrence of PE. Chi-square tests were used to investigate the risk factors that were associated with the development of PE. Kaplan-Meier method was used for survival analysis of the 2 groups. Results: Twenty-five out of 446 patients (5.6%) developed PE at a time of 75.0 (66.5, 112.5) days after allo-HSCT. Among these patients, 22 cases (88.0%) had PE within 6 months after allo-HSCT and 19 patients (76.0%) had PE within 100 days after allo-HSCT. The diagnoses of PE were confirmed using echocardiography. Pericardial tamponade was observed in only 1 patient, who later undergone emergency pericardiocentesis. The rest of patients received conservative managements alone. PE disappeared in all patients after treatment. Risk factors that were associated with the development of PE after allo-HSCT included the gender of patients, the type of transplantation, the number of mononuclear cells (MNC) infuse, pulmonary infection after HSCT and transplantation associated thrombotic microangiopathy (TA-TMA) (χ²=3.99, 10.20, 14.18, 36.24, 15.03, all P<0.05). In 239 patients that received haploidentical HSCT, the development of PE was associated with the gender of patients, pulmonary infection after HSCT and TA-TMA (χ²=4.48, 20.89, 12.70, all P<0.05). The overall survival rates of PE and non-PE groups were 96.0% (24/25) and 98.6% (415/421). The development of PE was not associated with the overall survival of TM children after allo-HSCT (χ²=1.73, P=0.188). Conclusions: PE mainly develop within 100 days after allo-HSCT in pediatric TM recipients. Haploidentical grafts, female gender, pulmonary infection after HSCT and TA-TMA are the main risk factors associated with PE development after transplant. However, the presence of PE don't have a significant impact on the outcomes of pediatric TM patients after allo-HSCT.
Child ; Female ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Humans ; Pericardial Effusion/etiology* ; Retrospective Studies ; Risk Factors ; Thrombotic Microangiopathies/complications* ; beta-Thalassemia/therapy*

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

Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence of thalassemia and hemoglobinopathy is increased in Korea with rapid influx of people from endemic areas. Thus, the awareness of the disease is needed. α-thalassemias are caused by deletions in α-globin gene, while β-thalassemias are associated with decreased synthesis of β-globin due to β-globin gene mutations. Hemoglobinopathies involve structural defects in hemoglobin due to altered amino acid sequence in the α- or β-globin chains. When the patient is suspected with thalassemia/hemoglobinopathy from abnormal complete blood count findings and/or family history, the next step is detecting hemoglobin abnormality using electrophoresis methods including high performance liquid chromatography and mass spectrometry. The development of novel molecular genetic technologies, such as massively parallel sequencing, facilitates a more precise molecular diagnosis of thalassemia/hemoglobinopathy. Moreover, prenatal diagnosis using genetic testing enables the prevention of thalassemia birth and pregnancy complications. We aimed to review the spectrum and classification of thalassemia/hemoglobinopathy diseases and the diagnostic strategies including screening tests, molecular genetic tests, and prenatal diagnosis.
Amino Acid Sequence ; Anemia ; Blood Cell Count ; Chromatography, Liquid ; Classification ; Clinical Laboratory Techniques ; Diagnosis ; Electrophoresis ; Erythrocytes ; Genetic Testing ; Hematology ; Hemoglobinopathies ; High-Throughput Nucleotide Sequencing ; Humans ; Incidence ; Korea ; Mass Screening ; Mass Spectrometry ; Molecular Biology ; Parturition ; Pregnancy Complications ; Prenatal Diagnosis ; Thalassemia

: 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

Humans ; Immunophenotyping ; Leukemia, Large Granular Lymphocytic ; classification ; complications ; Receptors, Antigen, T-Cell, gamma-delta ; beta-Thalassemia ; complications

We report the rare case of a patient with advanced renal cell carcinoma (RCC) who initially presented to the hospital with symptoms of cardiac failure. Preoperative cardiac studies did not reveal any underlying ischemia. After resection of a large 14-cm left renal tumor, cardiac function was noted to improve dramatically. We discuss this case of concomitant RCC and nonischemic cardiomyopathy.
Asian Continental Ancestry Group ; Carcinoma, Renal Cell/*diagnosis/surgery ; Cardiomyopathies/*diagnosis ; Female ; Heart Failure/*etiology ; Humans ; Middle Aged ; Paraneoplastic Syndromes/complications ; Thalassemia/complications

Hemoglobinopathy and malaria are commonly found worldwide particularly in malaria endemic areas. Thalassemia, the alteration of globin chain synthesis, has been reported to confer resistance against malaria. The prevalence of thalassemia was investigated in 101 malaria patients with Plasmodium falciparum and Plasmodium vivax along the Thai-Myanmar border to examine protective effect of thalassemia against severe malaria. Hemoglobin typing was performed using low pressure liquid chromatography (LPLC) and alpha-thalassemia was confirmed by multiplex PCR. Five types of thalassemia were observed in malaria patients. The 2 major types of thalassemia were Hb E (18.8%) and alpha-thalassemia-2 (11.9%). There was no association between thalassemia hemoglobinopathy and malaria parasitemia, an indicator of malaria disease severity. Thalassemia had no significant association with P. vivax infection, but the parasitemia in patients with coexistence of P. vivax and thalassemia was about 2-3 times lower than those with coexistence of P. falciparum and thalassemia and malaria without thalassemia. Furthermore, the parasitemia of P. vivax in patients with coexistence of Hb E showed lower value than coexistence with other types of thalassemia and malaria without coexistence. Parasitemia, hemoglobin, and hematocrit values in patients with coexistence of thalassemia other than Hb E were significantly lower than those without coexistence of thalassemia. Furthermore, parasitemia with coexistence of Hb E were 2 times lower than those with coexistence of thalassemia other than Hb E. In conclusion, the results may, at least in part, support the protective effect of thalassemia on the development of hyperparasitemia and severe anemia in malaria patients.
Female ; Hemoglobins/genetics/metabolism ; Humans ; Malaria, Falciparum/blood/complications/*genetics/parasitology ; Malaria, Vivax/blood/complications/*genetics/parasitology ; Male ; Middle Aged ; Plasmodium falciparum/physiology ; Plasmodium vivax/physiology ; Thailand/epidemiology ; Thalassemia/blood/complications/epidemiology/*genetics

Wandering spleen or splenoptosis is an uncommon entity and often an asymptomatic finding of acute abdomen in the emergency department. A high index of suspicion for splenic torsion is required, particularly in patients with known splenomegaly, as this condition could potentially lead to splenic infarction. Recognition of this condition can help avoid potential confusion with acute abdomen of other aetiologies. Herein, we present a unique case of wandering spleen with chronic torsion, which, to the best of our knowledge, has never been described in an elderly patient with haemoglobin H thalassaemia. We also review the literature for the aetiology and pathogenesis of wandering spleen, and discuss the relevant diagnostic modalities and treatment options.
Abdominal Pain ; Aged ; China ; ethnology ; Female ; Hospitals ; Humans ; Singapore ; Thalassemia ; Tomography, X-Ray Computed ; Torsion Abnormality ; complications ; diagnosis ; surgery ; Wandering Spleen ; complications ; diagnosis ; surgery