Hematopoietic Organs and Blood
George W. Casarett in Radiation Histopathology, 2019
Erythrocytopenia develops to a still lesser degree after irradiation, despite the greater radiosensitivity and shorter transit time of marrow erythroblasts than of other myeloid precursors, because of the much longer circulating time of the erythrocytes compared to other blood cells and because of the earlier recovery of erythropoiesis (Figure 16). However, the erythrocytopenia may be greater than would be expected on the basis of normal cellular kinetics alone, when there has been considerable early loss of erythrocytes through damage and increased permeability of capillaries and later frank hemorrhage associated with thrombocytopenia, or in cases of considerable hemolysis. The erythrocytopenia is associated with a concomitant and usually proportional decline in blood hemoglobin (normochromic anemia) (Figure 17).
Blood and hemostasis
Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella in Essentials of Human Physiology and Pathophysiology for Pharmacy and Allied Health, 2019
Aplastic anemia is caused by a lack of red blood cell production by the bone marrow. If erythrocyte stem cells precursors are lacking or destroyed, the process of erythropoiesis will be severely impaired. Aplastic anemia may result from a congenital defect in stem cell production or can be caused by exposure to agents that damage the bone marrow, such as solvents, radiation, infection, chemotherapeutic drugs, and certain antibiotics (see Table 5.4). Drug-induced aplastic anemia is usually a dose-dependent phenomenon. The clinical manifestations of aplastic anemia will depend upon the extent to which hematopoiesis is impaired. General symptoms of anemia such as pallor, fatigue, lethargy can occur initially. Bleeding in the skin and from the nose, mouth and body orifices may also occur from a lack of platelet production by the abnormal bone marrow. Increased susceptibility to infection is also seen as a result of diminished white blood cell production. The underlying cause of the aplastic anemia needs to be identified and further exposure prevented. Treatment should also include avoidance of physiologic stresses and infection. Transfusions are effective for temporarily improving oxygen carrying capacity. In severe cases, bone marrow transplant may offer a cure.
Concepts of Replacement Therapy: Blood Components, Blood Derivatives, and Medications
Harold R. Schumacher, William A. Rock, Sanford A. Stass in Handbook of Hematologic Pathology, 2019
Red blood cells are indicated for the treatment of symptomatic anemia in patients who require an increase in oxygen-carrying capacity and red blood cell mass. Few topics in the field of transfusion medicine have received as much attention over the last decade as the decision process as to when a patient should receive a red blood cell transfusion, and the appropriate dose. The assessment of data used to make the transfusion decision has been termed the “transfusion trigger.” The traditional principle of transfusing all patients with a hemoglobin level less than 10 g/dL (or hematocrit <30%, the so-called “10/30” rule) is now outdated. The topic of red blood cell transfusions was addressed by a National Institute of Health Consensus Conference (1), with a number of additional reports in the literature over the last few years. In general, the data in these reports suggest that many patients receive little benefit from a red blood cell transfusion unless the hemoglobin is less than 8 g/dL, and in some cases less than 7 g/dL. One significant benefit of the effort to prevent transfusion-transmitted disease has been the change in the transfusion trigger from a laboratory value to a thorough evaluation of the patient, including patient history, cardiac status, oxygen delivery, consumption, and extraction ratios (2). Careful consideration of the cost-benefit ratio has reduced the number of transfusions in most centers, with an overall improvement in transfusion practices (3).
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
Published in Platelets, 2023
Ana Marín-Quílez, Christian A. Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, Jose Maria Bastida
Very recently, we have identified the p.Thr150Met variant in compound heterozygosis with the novel one p.Lys78ValfsX32 in a non-consanguineous family affected with mental retardation, mitral valve prolapse, hyperbilirubinemia, and severe bleeding tendency and macrothrombocytopenia. One of the affected patients had slight leukopenia and mild anemia, while another one presented with erythroblast in blood film since the patient was splenectomized [5]. In addition, we also characterized a second unrelated family with a similar phenotype, carrying the novel variants p.Val128Met and p.Leu223Pro. In this study, we unveiled that these GALE variants are associated with reduced GPIbα and β1 integrin glycosylation and externalization to the megakaryocyte and platelet surface, disrupting the F-actin and filamin A distribution in megakaryocytes, thus affecting the platelet production. Moreover, hypoglycosylated and unfunctional platelets were reported, which were prone to apoptosis, highlighting the key role of GALE in platelet glycosylation, production, and function [5]. Similar to the p.Glu165Lys and p.Trp336* variants described by Bang YL, et al. [21], both p.Val128Met and p.Leu223Pro seem to have an unstable folding leading to reduced protein levels in platelets [5]. Considering that the most GALE variants associated with the generalized forms of the disease are not found in the NAD+ or substrate binding sites (Figure 4), it is expected that the pathogenicity is due to an abnormal folding and function of the protein.
Haploidentical Hematopoietic Stem Cell Transplantation in Thalassemia
Published in Hemoglobin, 2022
Usanarat Anurathapan, Samart Pakakasama, Duantida Songdej, Pongpak Pongphitcha, Ampaiwan Chuansumrit, Borje S. Andersson, Suradej Hongeng
In Thailand, thalassemia and hemoglobinopathies are the most common inherited genetic diseases. Patients with thalassemia and hemoglobinopathies have low red blood cell numbers, so-called anemia, from ineffective erythropoiesis and increased peripheral red cell destruction. As a result, patients have fatigue, slow growth rate, and increased liver and spleen sizes. Furthermore, they may have abnormal bone development. Owing to the high prevalence of the carrier state of thalassemia and hemoglobinopathies approaching 40.0% in the Thai population, approximately 300 children are born with thalassemia diseases annually. The accumulated number of thalassemia and hemoglobinopathies in Thailand is around half a million cases. Even though some might not need regular red cell transfusions, so-called non transfusion dependent thalassemia (NTDT), approximately 200,000 patients suffer from severe thalassemia, so-called transfusion-dependent thalassemia (TDT), defined by the lowest hemoglobin (Hb) level of less than 7.0 g/dL, age at the time of presentation less than 3 years and requiring regular red cell transfusions. Patients with TDT might experience subsequent complications from the regular transfusions, i.e., at risk of iron overloading and transfusion-transmitted diseases. Consequently, those patients with TDT are absent from school when they receive regular blood transfusions at hospitals, and their parents have to skip work. The only available curative treatment for those with severe thalassemia is hematopoietic stem cell transplantation (HSCT).
The first Chinese case of unstable Hemoglobin Santa Ana detected by capillary electrophoresis: a case report and literature review
Published in Hematology, 2022
Li Du, Danqing Qin, Jicheng Wang, Cuize Yao, Juan Zhu, Hao Guo, Tenglong Yuan, Jie Liang, Aihua Yin
Intrinsic disorders of erythrocytes are a common cause of hemolytic anemia in children and adults [10]. Patients typically present symptoms of hemolytic anemia and dark urine should be needed to investigate this aspect. Due to the simple procedure, red cell enzyme assays should be performed preferentially. Once disorders of erythrocyte metabolism have been ruled out, unstable hemoglobinopathies should be considered. It is well known that the CE method is suitable for the detection and quantification of hemoglobin variants and thalassemias, with better performance than HPLC. In our study, we for the first time showed that hemoglobin Santa Ana can be detected by CE. This unstable hemoglobin is first described herein as a de novo variant in the Chinese population. In summary, our findings will be useful to assist in genetic counselling and prenatal diagnosis.
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