Hereditary spherocytosis unmasked by human parvovirus b19 induced aplastic crisis in a family

Human parvovirus [HPV] B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis [HS] is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction [PCR] and positive serology for specific anti-HPV B19 IgM. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis. Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease

Optimal method for early detection of cardiac disorders in thalassemia major patients: magnetic resonance imaging or echocardiography?

BACKGROUND: Heart failure resulting from myocardial iron deposition is the most important cause of death in beta-thalassemia major (TM) patients. Cardiac T2*magnetic resonance imaging (MRI), echocardiography, and serum ferritin level serve as diagnostic methods for detecting myocardial iron overload. In this study, we aimed to evaluate the relationship between the above-mentioned methods. METHODS: T2*MRI and echocardiographic measurement of left ventricular (LV) systolic and diastolic function were performed in 63 patients. Serum ferritin level was measured. The relationships between all assessments were evaluated. RESULTS: There were 40 women and 23 men with a mean age of 23.7+/-5.1 years (range, 15-35 years). There was no statistically significant correlation between serum ferritin level and LV systolic and diastolic function (P=0.994 and P=0.475, respectively). T2*MRI results had a significant correlation with ferritin level; 63.6% of patients with serum ferritin level >2,000 ng/mL had abnormal cardiac MRI, while none of the patients with ferritin level <1,000 ng/mL had abnormal cardiac MRI (P=0.001). There was no significant correlation between MRI findings and LV systolic function (P=1.00). However, we detected a significant difference between LV diastolic function and cardiac siderosis (P=0.03) CONCLUSION: MRI findings are a good predictor of future cardiac dysfunction, even in asymptomatic TM patients; however, diastolic dysfunction may happen prior to cardiac siderosis in some patients, and echocardiography is able to diagnose this diastolic dysfunction while T2*MRI shows normal findings.

Multifocal kaposiform hemangioendothelioma of soft tissue with bilateral pulmonary involvement in an adolescent / 소아과

Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor of intermediate malignancy with resemblance to Kaposi sarcoma. It occurs predominantly in pediatric age groups as a cutaneous lesion with focal infiltration into the adjacent soft tissue and bone. Although visceral involvement is very uncommon, several cases with bone, retroperitoneal, or mediastinal involvement have been described. KHE has been reported to occasionally occur in unusual sites such as the thymus, tonsils, larynx, paranasal sinuses, deltoid muscle, spleen, uterine cervix, thoracic spine, and even the breast. Multifocal KHE is an extremely rare entity with few reports available in the literature, none of which describes pulmonary involvement. Herein, we report a unique case of multifocal KHE in a 13-year-old boy presenting with a huge soft tissue mass in the upper extremity complicated by bilateral pulmonary nodules that developed into large, necrotic tumor masses.

Efficacy and safety of combined oral iron chelation therapy with deferasirox and deferiprone in a patient with beta-thalassemia major and persistent iron overload

No abstract available.

Hematological malignancies complicating beta-thalassemia syndromes: a single center experience

No abstract available.

Clinical outcomes of Torque teno virus-infected thalassemic patients with and without hepatitis C virus infection / 대한혈액학회지

BACKGROUND: Although a marked proportion of thalassemic patients acquire Torque teno virus (TTV) through blood transfusion, its clinical importance is unclear. This study was designed to investigate the clinical importance of TTV infection in thalassemic patients with and without hepatitis C virus (HCV) co-infection in Iran. METHODS: In this case-control study, 107 thalassemic patients on chronic transfusion and 107 healthy individuals were selected. According to HCV and TTV infection status (detected by semi-nested PCR), patients were categorized into 4 groups: TTV and HCV negative, TTV positive, HCV positive, and TTV and HCV positive. Blood ferritin, alanine aminotransferase (ALT), and aspartate aminotransferase (AST) levels in these 4 groups were assessed. RESULTS: Approximately half of the thalassemic patients (50.5%) and 27.1% of controls had TTV infection. Thalassemic patients had a greater chance of TTV infection compared to the control group with a sex-adjusted OR of 4.13 (95% CI=2.28-8.13). The increased levels of ALT, AST, and ferritin in the TTV and HCV-infected group were not significantly different from those in the TTV and HCV negative group. Co-infection with TTV and HCV did not significantly increase ALT, AST, and ferritin levels compared to infection with TTV alone. CONCLUSION: Although common in thalassemic patients, TTV infection appears to have a negligible role in increasing the severity of liver disease, even when co-infection with HCV occurs.

[Serum folate levels in major beta Thalassemia patients]

Beta major thalassemia is a variant of beta thalassemia syndrome which could be treated with bone marrow transplantation or if not available, regular blood transfusion. In the latter case, supportive therapy is the mainstay of treatment because of low folate intake or absorption. But the main cause of insufficient supportive therapy is the increasing need of bone marrow for ineffective erythropoiesis in the absence of regular blood transfusion. The purpose of regular blood transfusion in beta major thalassemia patients is to maintain the range of hemoglobin level between 9 and 11 gr/dl to stop insufficient erythropoiesis completely. Therefore, by regular blood transfusion, supportive therapy with folic acid would not be needed. The aim of this study is to determine serum folate level in regular transfused [3 major thalassemia patients in Mofid Children's Hospital during 2006. This is a cross sectional descriptive-analytic study performed on 100 beta major thalassemia patients receiving regular blood transfusion and desferal. Post-storage leukodepleted blood is used for transfusion. Patients' data is achieved from information data sheets. Serum folate level is determined with Electrochemiluminescence method in one of the most reliable laboratory centers. Normal serum folate level was 3-17.5 ng/ml in this laboratory with the sensitivity of 0.6 ng. Data analysis is performed with SPSS analysis software, and with chi squared, T-test and Spearman test. 56 [56%] girls and 44 [44%] boys entered this study with a median age of 156 [ +/- 71.2] months and an age range of 14-288 months. Patients' median hemoglobin level was 9.5 [ +/- 0.87] g/dl, with minimum of 7.5 and maximum of 11.9 g/dl. Mean MCV was 84.2 [ +/- 4.20] fl, with the range of 73.4 -95.3 fl. Seaim folate level was in the range of 1-19 ng/ml and median of 9 [ +/- 4.9] ng/ml. Serum folate was less than 3 ng/ml in 3% of evaluated patients. Hemoglobin level was equal or more than 9 g/dl in 73% of patients. It seems that if major [3 thalassemia patients receive regular blood transfusion, their serum folate level would be in normal range and supplementation therapy with folate will not be necessary

Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to anti-CD20 monoclonal antibody

Immunodeficiency and autoimmune disease may occur concomitantly in the same individual. Some of the immunodeficiency syndromes, especially humoral defects are associated with autoimmune disorders. Hematological manifestations such as thrombocytopenia and hemolytic anemia are the most common presentations. Persistent antigen stimulation due to an inherent defect in the ability of the immune system to eradicate pathogens is the primary cause leading to autoimmunity in patients with primary immunodeficiency states. We describe a 10 year old Iranian girl with chronic granulomatous disease -the autosomal recessive type with mutation of NCF1 gene P47- associated with selective IgA deficiency, refractory immune thrombocytopenia that showed an excellent response to Rituximab [Anti-CD20 monoclonal antibody]. Patients with primary immunodeficiencies may have variable autoimmune manifestations. So for early detection and appropriate treatment, autoimmune diseases should always be suspected in such patients

Frequency of red cell alloimmunization in patients with beta-major thalassemia in an Iranian referral hospital

Frequency of red cell alloimmunization in patients with ?-major-thalassemia in Mofid children's hospital. Tehran. IranThis is a cross-sectional descriptive study conducted in Mofid children's hospital, March 2007. A total of 121 major thalassemia patients on regular blood transfusion were included in this study. Clinical and laboratory data were collected and analyzed to find out the frequency, pattern and factors influencing red cell immunization secondary to multiple blood transfusions in these patients. Mean age of patients was 13 [6.19] from 2-26 years. They had received regular blood transfusions during periods ranging from 1 to 25.5 years. Red cell alloimmunization was found in 9 patients [7.4%]. In female group, 5 out of 66 [7.6%] patients and in male group 4 out of 55 [7.3%] patients had evidence of alloimmunization.The mean age of patients with alloimmunization was 9.6 [6.5] years [range 3.7-20]. Four patients [44.4%] with alloimmunization were more than 3 years old at the time of first blood transfusion. The mean age at first blood transfusion in patients with alloimmunization and without alloimmunization was 2.8 [2.4] and 1.7 [2.0] years [P=0.1]. The differential rate of splenectomy as a risk factor between patients with and without alloimmunization [11.1% and 8% respectively] was not statistically significant [P=0.5]. Direct or indirect antiglobulin tests were positive in 5 [62.5%] patients. The blood alloantibodies by a panel of antibodies using standardized blood bank methods were detected in 4 patients, which were of anti-K and anti-D types. he rate of red blood cell alloimmunization is relatively low in our patients. The age at first blood transfusion and splenectomy were not statistically significant as risk factors for alloimmunization in this study

Autoimmune lymphoproliferative syndrome; a case report

Autoimmune lymphoproliferative syndrome is a disorder of lymphoid system regulation characterized by chronic splenomegaly, lymphadenopathy and autoimmune phenomena especially immune-mediated cytopenias. The hallmark of the disease is the presence in peripheral blood and lymphoid tissue of increased numbers of a normally rare T lymphocyte subset, usually referred to as [double-negative] T cells. Here the authors report a 16-year-old boy when he was first hospitalized for diffuse petechiae, purpura and epistaxis at 9 years of age.One year later,he was readmitted for high fever and recurring cytopenia. On examination several enlarged, nontender lymph nodes involving cervical and submandibular areas and a huge spleen were detected.Lymph node biopsy was performed two times. According to flowcytometry of peripheral blood and immunophenotyping of lymph node tissues which revealed increased numbers of CD3[+]CD4[-]CD8[-] T-lymphocytes autoimmune lymphoproliferative syndrome was suggested for him. Autoimmune lymphoproliferative syndrome should be considered in differential diagnosis of any patient with unexplained Coomb's positive cytopenias, hypergammaglobulinemia, generalized lymphadenopathy and splenomegaly. The confirmation of the diagnosis should be based upon genetic analysis and detection of the affected genes involved in fas pathway