ABSTRACT
Hereditary hemolytic anemia associated with pyruvate kinase deficiency is a rare hematological disorder that affects the glycolic pathway within red blood cells. The standard of care includes splenectomy, transfusions, and hematopoietic stem cell transplantation. However, these treatments can lead to common iatrogenic side effects such as infections, surgical complications, and iron overload. The novel drug therapy Mitapivat has shown promising results in terms of both efficacy and safety, but it can cause rare side effects such as fractures. In this report, we present the case of a 75-year-old female with hereditary hemolytic anemia caused by pyruvate kinase deficiency who suffered rib and vertebral body fractures after the initiation of Mitapivat. Screening for key risk factors of bone mineral disease can help identify patients who are at higher risk of developing fractures before starting therapy. In the future, gene therapy may provide an alternative treatment option for patients with hereditary hemolytic anemia with metabolic bone disorders.
ABSTRACT
Hodgkin's lymphoma (HL) is a common and potentially curable malignancy that has an overall good prognosis when timely treatment with chemoradiation is delivered. Recurrence of malignancy is one complication seen in patients successfully treated for HL. In most cases, the recurring malignancy can be a solid tumor or leukemia. While recurrence of a non-HL (NHL) has been reported, this is relatively uncommon. Angioimmunoblastic T-cell lymphoma (AITL) is a rare nodal appearing, peripheral T-cell lymphoma and represents 2% of all NHLs. Its clinical features include generalized lymphadenopathy, varying constitutional symptoms, and autoimmune-related hematologic findings, such as hemolytic anemia and or thrombocytopenia. Diagnosis is made based on histological and immunohistochemical (IHC) findings, which show evidence of T-cells, follicular T-cell markers, and characteristic genomic features including mutations of T-cell receptor or T-cell receptor signaling genes. It is a characteristically aggressive cancer with a poor prognosis if untreated and therefore requires prompt diagnosis. While sporadic AITL is rare on its own, data on AITL occurrence in patients previously treated for HL is lacking. We present a peculiar case of an 80-year-old patient who was diagnosed and treated for stage IV Hodgkin's disease only to be later diagnosed with AITL.
ABSTRACT
The marked pro-thrombotic tendency in PNH is likely to be at least partly due to the population of platelets derived from the abnormal stem cell clone. However, identification of GPI (-) platelets by flow cytometry can be technically difficult. Here we describe a technique that involves the addition of aspirin immediately after the separation of platelet rich plasma and the use of gel filtration to isolate platelets away from plasma proteins and other blood cells. In a study of 92 analyses of samples from 50 patients, we have demonstrated that the percentage of PNH platelets correlates well with the percentage of PNH granulocytes. We also provide data on several cases where there was an extreme discrepancy between the proportion of PNH granulocytes and red cells; in these cases, the demonstration of abnormal platelets suggests that the patient is likely to be at risk of thrombosis. We believe this test will be potentially useful in the evaluation of samples from such patients and may serve as a tool to investigate the causes of hypercoagulability in PNH.
