Humans ; Anemia, Aplastic ; Leukemia, Large Granular Lymphocytic/diagnosis* ; Immunophenotyping

Aplastic anemia may develop secondary to environmental exposure to entities such as chemicals, medical drugs, and infectious agents. Fatal complications from antiepileptic medications may occur despite careful and appropriate use. We report the case of a 9-year-old girl with a presenting diagnosis of aplastic anemia following treatment with ethosuximide for absence seizures. Aplastic anemia can now be cured with stem cell transplantation or immunosuppressive therapy. In this case, however, because of the impossibility of bone marrow transplantation and the specific needs of the patient's parents, three courses of methylprednisolone pulse therapy were administered. Following the therapy, there was improvement in pancytopenia and complete remission in the bone marrow. No adverse side effects of therapy were observed. The authors suggest that methylprednisolone pulse therapy may be a treatment for acquired aplastic anemia.
Anemia, Aplastic* ; Anticonvulsants ; Bone Marrow ; Bone Marrow Transplantation ; Child ; Diagnosis ; Environmental Exposure ; Epilepsy, Absence ; Ethosuximide ; Female ; Humans ; Methylprednisolone* ; Pancytopenia ; Parents ; Stem Cell Transplantation

BACKGROUND AND OBJECTIVE: Haematopoietic stem cell transplant is a potentially curative treatment option in various benign and malignant haematological diseases. Patients undergoing stem cell transplant procedure require blood transfusion on a daily basis. Currently, there is paucity of data from developing countries on transfusion practices. This audit was undertaken to determine the consumption of packed red blood cells (PRBCs) transfusion in the bone marrow transplant unit of the Aga Khan University Hospital. SUBJECTS AND METHODS: A retrospective audit was conducted for packed red cell transfusion ordering practice over a period from June 2014~June 2015. All consecutive patients, admitted for stem cell transplant procedure for various underlying diseases were included. Outcome measures used in this study were (i) cross match to transfusion (C: T) ratio and (ii) transfusion trigger. RESULTS: During the study period, n=25 patients underwent haematopoietic stem cell transplant. There were n=19 males and n=6 females. One patient was less than 15 years of age while rests were adults. Median age±SD was 26.5±14.5 years (12~54 years). The underlying diagnosis included Aplastic anemia (n=8), Thalassemia major (n=3), Multiple Myeloma (n=4), Acute leukemia (n=5), Hodgkin’s lymphoma (n=4), PRCA (n=1). Grand total consumption of PRBCs during the study period was 204 while 258 products were crossmatch. The C:T ratio was 1.26. The transfusion trigger was Hb level of less than 8 gms/dl. CONCLUSION: The results of our BMT unit indicate that the C:T ratio and transfusion trigger is comparable to the international benchmark.
Adult ; Anemia, Aplastic ; Benchmarking ; beta-Thalassemia ; Blood Transfusion ; Bone Marrow ; Developing Countries ; Diagnosis ; Erythrocytes ; Female ; Humans ; Leukemia ; Lymphoma ; Male ; Multiple Myeloma ; Outcome Assessment (Health Care) ; Retrospective Studies ; Stem Cells* ; Tertiary Healthcare*

Epstein-Barr virus (EBV) causes various acute and chronic diseases. Chronic active EBV infection (CAEBV) is characterized by infectious mononucleosis-like symptoms that persist for more than 6 months with high viral loads in peripheral blood and/or an unusual pattern of anti-EBV antibodies. Severe CAEBV is associated with poor prognosis with severe symptoms, an extremely high EBV-related antibody titer, and hematologic complications that often include hemophagocytic lymphohistiocytosis. However, CAEBV which led to the development of aplastic anemia (AA) has not been reported yet. A 73-year-old woman was admitted to our hospital with intermittent fever, general weakness and elevated liver enzymes. In the serologic test, EBV-related antibody titer was elevated, and real-time quantitative-PCR in peripheral blood showed viral loads exceeding 10(4) copies/microg DNA. Liver biopsy showed characteristic histopathological changes of EBV hepatitis and in situ hybridization with EBV-encoded RNA-1 was positive for EBV. Pancytopenia was detected in peripheral blood, and the bone marrow aspiration biopsy showed hypocellularity with replacement by adipocytes. AA progressed and the patient was treated with prednisolone but deceased 8 months after the diagnosis due to multiple organ failure and opportunistic infection. Herein, we report a rare case of severe CAEBV in an adult patient accompanied by AA and persistent hepatitis.
Aged ; Anemia, Aplastic/*complications ; Carbapenems/therapeutic use ; Chronic Disease ; DNA, Viral/blood ; Epstein-Barr Virus Infections/complications/*diagnosis/pathology ; Female ; Hepatitis/*complications ; Herpesvirus 4, Human/*genetics/isolation & purification ; Humans ; Real-Time Polymerase Chain Reaction ; Severity of Illness Index ; Urinary Tract Infections/drug therapy

No abstract available.
Adolescent ; Anemia, Aplastic/*diagnosis/pathology ; Bone Marrow/pathology ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Half-Life ; Humans ; Immunohistochemistry ; Male ; Mutation ; Myelodysplastic Syndromes/*diagnosis/pathology ; Retrospective Studies ; Tumor Suppressor Protein p53/genetics/*metabolism

OBJECTIVETo investigate the clinical application of fluorescent in situ hybridization (FISH) for the differential diagnosis of myelodysplastic syndromes (MDS) and aplastic anemia (AA).

METHODSA FISH kit capable of detecting the chromosomal abnormalities related to MDS was used to analyze 94 patients who were suspected to have AA by bone marrow morphology.

RESULTSCytogenetic abnormalities were detected in 11 of the 94 patients, which included trisomy 8 (5 cases), 20q- (1 case) and -Y (1 case). There were 4 cases related to MDS, which included 3 cases of 5q-, in which 1 case carry 20q- at the same time, and 7q- (1 case). No significant difference was found between the MDS and AA groups in terms of age, sex or routine blood examination including absolute neutrophil count, hemoglobin content and platelet count.

CONCLUSIONFISH can detect certain cytogenetic abnormalities related to MDS in patients morphologically diagnosed as AA.

Adolescent ; Adult ; Aged ; Anemia, Aplastic ; diagnosis ; genetics ; Bone Marrow Cells ; cytology ; Child ; Chromosome Aberrations ; Chromosomes, Human, Pair 7 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Male ; Middle Aged ; Trisomy ; genetics

OBJECTIVETo evaluate the value of mean corpuscular volume/RBC distribution width (MCV/RDW) combined with reticulocyte parameters in differential diagnosis of aplastic anemia (AA), myelodysplastic syndrome (MDS), megaloblastic anemia (MA) and hemolytic anemia (HA) in order to provide some laboratorial evidence for clinical doctors in first diagnosis of these diseases.

METHODSThe data of MCV/RDW and reticulocyte parameters of AA, MDS, MA and HA patients from January 1 of 2011 to August 31 of 2014 were retrospectively collected in West China Hospital of Sichuan University. And 158 healthy unrelated individuals with age-, sex-matched were collected as controls. The value of MCV/RDW and reticulocyte parameters in differentiating diagnosis of above mentioned 4 kinds of anemia diseases was assessed. ROC analysis was used to determine the cutoff value of MCV/RDW and the reticulocyte parameters were performed in differentiating diagnosis of AA and MDS.

RESULTSThe average values of MCV/RDW of 158 AA patients (79 acute AA patients and 79 chronic AA patients), 107 MDS patients, 13 MA patients and 81 HA patients increased in variable degrees as compared with the controls, and there was statistical difference between them, the MCV/RDW value of acute AA patients was obviously less than that of other patients. In the 4 kinds of anemia diseases, the reticulocyte absolute count in acute AA patients was the lowest, that of chronic AA, MA and MDS patients was higher, and that of HA patients was highest. The ratio of low fluorescent reticulocyte decreased, and the ratio of moderate and high fluorescent reticulocytes increased in the 4 kinds of anemia diseases, as compared to controls. The difference was statistically significant. The analysis of differential diagnosis of chronic AA and MDS showed that RDW-SD could differentiate the chronic AA from MDS. The area under the curve (AUC) of RDW-SD was 0.76 (P < 0.01). The cutoff value of RDW-SD was 22.75fl. The sensitivity and specificity of RDW-SD for differential of chronic AA and MDS was 49.5% and 98.7%, respectively.

CONCLUSIONMCV/RDW and reticulocyte parameters can be used as the laboratorial differential diagnostic indicators for AA, MDS, MA and HA diseases.

Anemia, Aplastic ; Anemia, Hemolytic ; Anemia, Megaloblastic ; China ; Diagnosis, Differential ; Erythrocyte Indices ; Humans ; Myelodysplastic Syndromes ; Reticulocyte Count ; Reticulocytes ; Retrospective Studies

OBJECTIVETo enrich our national database with data of rare diseases by analyzing molecular diagnosis and hematopoietic stem cell transplantation (HSCT) in children with inherited bone marrow failure syndromes (IBMFS).

METHODNext-generation sequencing (NGS)-based genetic diagnosis panel was applied for the clinical diagnosis and management of IBMFS. Retrospective analysis was performed on clinical and genetic data of 17 consecutive children who received HSCT over a long time interval (November. 2005-June 2015).

RESULTThree patients were diagnosed only by clinical manifestation before 2012. After that NGS-based genetic diagnosis panel was used to identify IBMFS-related genes in 12/14.IBMFS patients (except two Diamond-Blackfan anemia (DBA) patients). Two Fanconi anemia (FA) patients were confirmed to be new variations through family-genotype-analysis and 3 families accepted prenatal diagnosis to avoid birth of affected fetuses. Seventeen IBMFS patients (10 FA,5 DBA and 2 dyskeratosis congenital (DKC)) were treated with HSCT from matched sibling donors (n=2), matched unrelated donors (n=8) or mismatched unrelated donors (n=7). The source of stem cells for transplantation included peripheral blood (n=12) and cord blood (n=5). With regard to the conditioning regimens, FA and DKC patients received fludarabine-based reduced intensity conditioning, while DBA patients received classical busulfan-based myeloablative conditioning. Median age at the time of HSCT was 36 months (7-156 months). The number of infused mononuclear cells and CD34⁺ cells was (10.6 ± 6.7) × 10⁸ and (5.9 ± 7.0) × 10⁶ per kilogram of recipient body weight, respectively. The median number of days to neutrophil recovery was 13 days after HSCT (range: 10-19 days). Platelet recovery was faster in the PBSCT group than in the CBT group ((16.3 ± 6.0) days vs. (30.0 ± 17.1) days,t=-2.487,P=0.026). During a median follow-up of 17 months (range: 2-114 months), except one FA patient who was transplanted with HLA-matched unrelated cord blood (CB) died from pneumonia and heart failure because of engraftment failure, other 16 children are alive after the successful HSCT. The failure-free survival rate of the patients three years after HSCT was 94%.

CONCLUSIONNGS-based molecular diagnosis technology and effective HSCT have significantly facilitated the treatment of children with IBMFS in our country, and our national database about this rare disease is to be further exploited.

Anemia, Aplastic ; Anemia, Diamond-Blackfan ; therapy ; Bone Marrow Diseases ; Child ; Dyskeratosis Congenita ; therapy ; Fanconi Anemia ; therapy ; Fetal Blood ; Hematopoietic Stem Cell Transplantation ; Hemoglobinuria, Paroxysmal ; diagnosis ; genetics ; therapy ; Humans ; Retrospective Studies ; Siblings ; Survival Rate ; Transplantation Conditioning ; Unrelated Donors ; Vidarabine ; analogs & derivatives ; therapeutic use

Polyglandular autoimmune syndrome (PAS) is a group of syndromes comprised of glandular and extra-glandular disorders characterized by autoimmunity. A 57-year-old woman presented with acute progressive dyspnea and generalized weakness for several months. The patient was assessed to have acute congestive heart failure with cardiomyopathy, chronic renal failure with hyporeninemic hypoaldosteronism, and pancytopenia in addition to primary hypothyroidism and adrenal insufficiency. With the diagnosis of PAS type 2 complicated by multiple organ failure (MOF), medium-dose prednisolone (30 mg/d) was introduced primarily to control the activity of autoimmunity, which triggered MOF over the adrenal insufficiency. Levothyroxine (25 microg/d) was followed for replacement of the thyroid hormone deficiency. However, the symptoms and signs fluctuated, depending on the dosage of prednisolone, and progressively worsened by empty sella syndrome and aplastic anemia. Here, we report on a case of PAS type 2 with MOF and atypical complications, and suggest that recognition, assessment, and control of PAS as a systemic autoimmune disease may be essential.
Adrenal Insufficiency ; Anemia, Aplastic* ; Autoimmune Diseases ; Autoimmunity ; Cardiomyopathies ; Diagnosis ; Dyspnea ; Empty Sella Syndrome* ; Female ; Heart Failure ; Humans ; Hypoaldosteronism ; Hypothyroidism ; Kidney Failure, Chronic ; Middle Aged ; Multiple Organ Failure* ; Pancytopenia ; Prednisolone ; Thyroid Gland ; Thyroxine

BACKGROUND: The presence of significant dysplasia in bone marrow (BM) aspirates helps to distinguish between hypocellular myelodysplastic syndrome (hMDS) and aplastic anemia (AA). Occasionally, diluted BM aspirates make it difficult to recognize dysplastic changes and can also negatively affect the detection of cytogenetic abnormalities in hMDS. We evaluated the usefulness of CD34 and p53 immunoreactivity for discriminating between hMDS and AA and for estimating survival outcomes in hMDS patients. METHODS: BM clot section (BMC) or BM biopsy (BMB) specimens were obtained from 64 hMDS/AA patients (33 with hMDS and 31 with AA) and seven controls. Immunohistochemical (IHC) staining for CD34 and p53 was performed by using the EnVision detection system (Dako, Denmark). We compared the results of IHC staining, BM findings, and chromosomal analyses, and determined overall survival outcomes. RESULTS: The number of CD34- and p53-positive BM cells was higher among the patients with hMDS than among the patients with AA (P<0.001 and P=0.001, respectively). hMDS patients with increased CD34-positive cells had significantly poorer survival outcomes compared with those with normal number of CD34-positive cells (P=0.013). CONCLUSIONS: CD34 and p53 IHC stains of BMC or BMB provide useful information for differentiating between hMDS and AA. CD34 IHC staining of BMC or BMB also provides useful information for estimating survival outcomes in hMDS patients.
Adolescent ; Adult ; Anemia, Aplastic/*diagnosis ; Antigens, CD34/*metabolism ; Bone Marrow/metabolism/*pathology ; Child ; Chromosome Aberrations ; Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Myelodysplastic Syndromes/*diagnosis/mortality ; ROC Curve ; Tumor Suppressor Protein p53/*metabolism