Hematol. Rep., Volume 12, Issue 1 (May 2020) – 6 articles

Hemoglobin D is a relatively rare disease first reported in 1951. We present the first reported case of Hemoglobin DC disease. This is a case of a Hemoglobinopathy with DC disease in a woman with a previous diagnosis of Hemoglobin SC disease. A 19-year-old woman presented to the Adult Hematology clinic at a tertiary care hospital in Northwest Louisiana for transition of care from Pediatric Hematology for a diagnosis of Hemoglobin SC disease diagnosed at the age 4. Historical data suggested no avascular necrosis, acute chest syndrome, and very few episodes of pain crisis. She has never taken hydroxyurea. Laboratory work showed persistently normal hemoglobin and white blood cell counts. All sickle cell preparations in the past were negative. Computerized tomography scan of the abdomen was reviewed and showed a spleen grossly normal in size and appearance. Given the incongruent clinical picture for sickle cell disease, repeat hemoglobinopathy evaluation with Capillary electrophoresis and confirmatory acid electrophoresis (to differentiate hemoglobins that co-migrate with Hemoglobin S) showed a probable double heterozygote for Hemoglobin D and C with suspected coexistent alpha thalassemia minor based on red blood cell indices. This case confirms the importance of the required confirmatory method to ensure a correct diagnosis since a misdiagnosis can lead to numerous adverse clinical or psychological effects for patients. Full article

Anaplastic lymphoma kinase (ALK)- negative anaplastic large cell lymphoma (ALCL) is an aggressive CD30-positive non- Hodgkin lymphoma. ALK-ALCL rarely manifests with extensive bone marrow and peripheral blood involvement (known as “leukemic phase”). A 54-year-old woman was diagnosed with ALK-ALCL in leukemic phase, characterized by an extremely poor prognosis. Lymphoma cells in this case showed chromosomal translocation 1p36.1- encoded RUNX3 and overexpression of its protein. She was refractory to CHOP and salvage chemotherapy. Fortunately, she achieved complete remission with three cycles of Brentuximab vedotin (BV) and underwent umbilical cord blood transplantation. However, she died due to treatment-related mortality on day 129. The autopsy findings showed no lymphoma cells. Treatment strategy for ALK-ALCL is controversial, but the efficacy of BV in CD30-positive peripheral T-cell lymphoma not only as salvage regimens, but also in first line, has been reported in recent years. BV may be an effective option for ALK-ALCL in leukemic phase. Full article

Pyruvate kinase deficiency (PKD) is the rare glycolytic enzyme defect causing hemolytic anemia. Treatments are mainly red cell transfusion and/or splenectomy, leading to iron overload. Allogeneic bone marrow transplantation (BMT) is alternatively curative treatment for severe PKD. The intensity of conditioning is often controversial because of higher risk of graft failure and organ damage. Here, we present a transfusion-dependent PKD patient undergoing BMT from an HLA-identical sibling using intensively immunosuppressive conditioning regimen. This report suggests that BMT using immunosuppressive conditioning regimen may be a feasible and effective treatment for patients with severe PKD with iron overload. We suggest the timing of the transplantation at an earlier age in severe PKD predicted from gene mutation is preferred before cumulative damage of transfusion. Full article

Background: Childhood epilepsy is one of the most common neurological disorders in pediatrics. The prevalence of active epilepsy is 5–8 per 1000 population in developed countries and 10 per 1000 population in developing nations. There is a significant relationship between epilepsy and cognitive deficits. Aim of study: prospective study to evaluate the effect of the most commonly used anti-epileptics drugs on plasma fibrinogen level. Patient and methods: 100 newly diagnosed patients (2 months to 15 years old) selected from Outpatient Clinic of Neurology attending Mansoura University Children’s Hospital for plasma fibrinogen level evaluation by taking basal sample and second sample after six months after the basal one. Results: This study showed that, significant positive correlation between plasma fibrinogen level and the use of antiepileptic drugs. Conclusions: epileptic patient should be closely monitored during Antiepileptic drugs treatment and prior to surgical procedures as they can affect plasma fibrinogen level and coagulation profile. Full article

The treatment landscape and clinical outcome of multiple myeloma (MM) patients have changed in the last decades, with an improved median survival of 8–10 years. This study aimed to evaluate the bortezomib, cyclophosphamide and dexamethasone (VCD) regimen versus bortezomib and dexamethasone (VD) regimen in patients with newly diagnosed MM. This study has been performed in a retrospective manner. One hundred and three patients with newly diagnosed MM who received chemotherapy at our tertiary care center between the years of 2009 and 2018 were evaluated. A total of 103 patients were included. The 5-year overall survival (OS) for patients who received VD regimen and patients who received VCD regimen were 75% and 83%, respectively. The OS for VD patients was 113.1 ± 12.5 versus 122.2 ± 9.5 months for VCD patients with no statistically significant difference (p = 0.47). The 5-year PFS (progression free survival) for patients who received VD regimen and patients who received VCD regimen were 66% and 75%, respectively. The PFS for VCD patients was higher than the PFS for VD patients (67.1 ± 7.4 versus 97.7 ± 13.4 months), but no statistically significant difference was observed (p = 0.59). Relapse rate (p = 0.002) and mortality rate (p = 0.01) were higher in VD group than VCD group and they were statistically significant. The OS and PFS were clinically longer in patients receiving VCD regimen than in patients receiving VD regimen, although not statistically significant. Cyclophosphamide should be given to patients at physician discretion and depending on patient’s frailty function. Full article