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Red Cells Containing Low-Oxygen-Affinity or M Hemoglobins
Published in Ronald L. Nagel, Genetically Abnormal Red Cells, 2019
Hb RPP was discovered in a Dominican neonate, can be identified electrophoretically, and migrates as Hb D in IEF. The whole blood p50 was 38 mmHg vs. a normal of 26 to 28. This abnormal hemoglobin was also unstable to some degree as demonstrated by the presence of Heinz bodies after 3 hr of incubation with brilliant cresyl blue. The propositus was a double heterozygote for β+ thalassemia so little could be interpreted as to the effect of Hb RPP with respect to anemia and Hb F levels.
Principles of Clinical Pathology
Published in Pritam S. Sahota, James A. Popp, Jerry F. Hardisty, Chirukandath Gopinath, Page R. Bouchard, Toxicologic Pathology, 2018
Niraj K. Tripathi, Jacqueline M. Tarrant
Heinz body formation within red cells is caused by test articles with oxidative properties. Heinz bodies are irreversibly denatured clumps of hemoglobin that attach to the inner surface of the red cell membrane. Macrophages phagocytize affected red cells completely or produce morphologically distinct red cells (e.g., ghost and blister cells) by selective removal of Heinz bodies. If large enough, Heinz bodies can be seen in blood smears using standard Romanowsky-type stains, but even small Heinz bodies stain prominently with supravital stains (e.g., methylene blue, crystal violet, or brilliant cresyl blue). Heinz body size and number are dependent on the causative agent, dose, and time after exposure. A high dose of a potent oxidative agent can cause acute anemia characterized by many red cells with a single large Heinz body (or less frequently multiple small Heinz bodies) and the presence of ghost cells, blister cells, and other morphologic abnormalities. Chronic exposure to a less potent oxidative agent may be associated with notably increased absolute reticulocyte count but only minimally decreased red cell mass because the regenerative process is able to match the increased red cell turnover.
Red Cells And Glucose-6-Phosphate Dehydrogenase Deficiency
Published in Ronald L. Nagel, Genetically Abnormal Red Cells, 2019
A number of screening tests and direct assays of red cell G6PD have been described.54-56 Widespread screening of individuals likely to be deficient is not a universally approved approach. Nevertheless, screening could be used to alert physicians that certain patients are at risk if pro-oxidant drugs are given, and the patients themselves could be counseled effectively. There is much confusion and lack of knowledge of this topic — even within the medical community — which needs to be corrected. At the present time, screening tests are used for rapid diagnosis. These tests include the ascorbate-cyanide test, the dye reduction test using brilliant cresyl blue, dichloroindophenol, methylene blue, or tetrazolium derivatives. A simple, quick, reliable, and specific screening test for G6PD deficiency is the fluorescent spot test.57 In this test, a small quantity (10 μℓ) of red cells is added to a prepared mixture of saponin, buffer, NADP+, and glucose-6-phosphate. After 5 and 10 min of incubation, the mixture is spotted on filter paper and viewed with a long wave UV light. The absence of fluorescence indicates G6PD deficient red cells. Ready made “reagent kits” are available from the Sigma Chemical Co., St. Louis, Mo., which also makes a kit for the kinetic quantitative assay of red cell G6PD activity, which needs to be done when a screening test is positive. No screening test is reliable in the case of heterozygotes whose red cell G6PD activity may, in the aggregate, exceed 60% of normal activity. In these cases, a quantitative assay, or a cytochemical elution test may be required to detect heterozygotes.58 In the case of reticulocytosis occurring in G6PD A- individuals, the values of even the quantitative test may rise into the normal range. In this case, another enzyme such as glutamate-oxaloacetate transaminase or hexokinase will be exceedingly high, but the G6PD level will simply be in the normal range. This disparity suggests G6PD deficiency. Alternatively, one can remove the less dense (younger red cells) and repeat the quantitative assay on the older red cells. Repeating the test, once the reticulocytosis has subsided, is still another option. In the author’s experience, clinicians tend to request work-up for G6PD deficiency after transfusions have been administered. Untransfused blood has rarely been set aside for this or other tests. In this case, one is forced to wait until most of the transfused blood disappears, unless the cytochemical elution test is available. Tests on blood from transfused patients are not acceptable. Screening tests, of course, are also inapplicable.
Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT)
Published in Hemoglobin, 2022
Xiao-Mei Lin, Fan Jiang, Jian Li, Dong-Zhi Li
The proband was the only son of a non consanguineous couple. The boy was first noted to be anemic at 2 years of age. His red blood cell (RBC) parameters showed microcytic hypochromic features with a Hb level of 8.0–9.0 g/dL. Two transfusions were given during his growth, both for anemia aggravation caused by infection. The patient was treated once for iron deficiency anemia, but failed to improve the anemia. At the age of 6 years, the child was referred to our center for elucidation of the cause of anemia. Physical examination showed a mild splenomegaly. Peripheral blood smears showed anisocytosis and poikilocytosis, hypochromia, basophilic stippling and reticulocytosis. Heinz bodies were observed in RBC upon staining with brilliant cresyl blue. The blood counts showed a mild anemia with microcytosis and hypochromia (Table 1). Hemoglobin (Hb) electrophoresis showed borderline Hb A2 and elevated Hb F values (Figure 1). No abnormal Hb was detected by capillary electrophoresis and high performance liquid chromatography. The heat and isopropanol stability tests showed no abnormal Hb. General physical examination was normal in both parents, with normal hematological features (Table 1).
Subclinical atherosclerotic predictive value of inflammatory markers in thalassemia intermedia patients
Published in Expert Review of Hematology, 2021
Osama Ahmad Ibrahim, Ahmad B. Ahmad, Dalia Ahmad Nigm, Asmaa Nady Hussien, Walaa H. Mohammad Ibrahim
Estimation of Hb, white blood cell count (WBC), and platelet count were performed on CELL-DYN 3700 hematology analyzer. The WBC differential used VCS technology which uses three simultaneous measurements of individual cell volume (V), high-frequency conductivity (C) and laser light scatter (S). The scattergram plotted the cells based upon the measurements of these three parameters. Reticulocyte count was carried out on brilliant cresyl blue-stained smear. An indirect enzyme-linked immunosorbent assay (ELISA) kit (Diametra SRL, Italy) was used to perform the ferritin level. Total cholesterol and triglyceride concentrations were estimated using enzymatic methods (Roche Diagnostics, Mannheim, Germany). HDL cholesterol was determined after precipitation with phosphotungstic acid/magnesium chloride. LDL cholesterol was measured by direct LDL-C assay (Roche Diagnostics). IL-6 was performed using an indirect enzyme-linked immunosorbent assay (ELISA) kit (SinoGeneclon Biotech Co., Ltd, China). Hs-CRP was done using an enzyme immunoassay test kit (Perfect Ease Biotech (Beijing) Co., Ltd, USA).
Hb H Disease Diagnosed During Adolescent Pregnancy
Published in Hemoglobin, 2020
Tekin Aksu, Çağrı Coşkun, Barış Kuşkonmaz, Şule Ünal, Selin Aytaç, Fatma Gümrük
Physical examination revealed pallor, obliterated Traube’s space, but spleen and liver size could not be evaluated due to pregnancy. Weight and height percentiles were 50 and 10 percentile, respectively. Abdominal ultrasonography confirmed hepatosplenomegaly. Laboratory studies of the patient before transfusion showed a hemoglobin (Hb) level of 7.7 g/dL, mean corpuscular volume (MCV) 65.0 fL, mean corpuscular Hb (MCH) 19.2 pg, and red blood cell distribution width (RDW) 28.2%. Complete blood count (CBC) values of the patient, spouse, child, and parents of the patient are shown in Table 1. The peripheral smear demonstrated severe hypochromia, anisopoikilocytosis, tear-drop shaped erythrocytes and microcytosis. Corrected reticulocyte count was 4.4%, serum ferritin level was 176.0 ng/mL, and bilirubin, lactate dehydrogenase (LDH) levels were normal. Hb H inclusions were demonstrated on the patient’s peripheral blood with brilliant cresyl blue staining.