Cyanotic congenital heart diseases in adulthood
Jana Popelová, Erwin Oechslin, Harald Kaemmerer, Martin G St John Sutton, Pavel Žáček in Congenital Heart Disease in Adults, 2008
The following parameters should be monitored regularly: blood count with special emphasis on hematocrit, erythrocyte count and indices, platelet counts, iron, ferritin, coagulation parameters, uric acid, urinalysis, ureate, creatinine, aspartate aminotransferase (ASAT), alanine aminotransferase (ALAT), bilirubin, gamma glutamyltranspepsidase (GGT), alkaline phosphatase (ALP), total protein and albumin. Hyperbilirubinemia and increased GMT are early markers of congestive hepatopathy. Ferritin is an early and sensitive marker of reduced iron stores if its serum levels fall to <15µg/l. However, ferritin levels tend to rise in chronic infectious and inflammatory diseases irrespective of iron stores. Microcytosis develops in cases of chronic iron deficiency. Hyperhomocysteinemia due to folate or vitamin B12 deficiencies may mask iron deficiency.10,23
Hematopoietic System
Pritam S. Sahota, James A. Popp, Jerry F. Hardisty, Chirukandath Gopinath, Page R. Bouchard in Toxicologic Pathology, 2018
Dysplastic changes in erythroid, myeloid, or megakaryocytic lineages are the result of maturation defects resulting in abnormal nuclear and/or cytoplasmic morphology. If significant, the alteration in maturation may be associated with ineffective hematopoiesis with concomitant peripheral cytopenias in affected cell line(s). Red blood cell indices may be indicative of erythrocyte macrocytosis or microcytosis. Marrow cellularity may be decreased, normal, or increased depending on the causative agent or inciting event, with increased numbers of precursors related to ineffective hematopoiesis often observed. Hematopoietic cell dysplasia is best identified on cytologic preparations, although changes in megakaryocytes can be seen in histologic sections. Dysplasia, while a characteristic feature of myelodysplastic syndrome (MDS) and other myeloproliferative disorders, has also been associated with drug or chemical exposure, nutritional deficiencies, chronic blood loss, and recovery from previous hypoplasia with increased cell production.
Erythrocyte SOD Levels
Robert A. Greenwald in CRC Handbook of Methods for Oxygen Radical Research, 2018
The activity of SOD, like other red cell enzymes, can be expressed in a variety of ways. Activities expressed on a per cell basis are normally most meaningful, but it is often more convenient to express activities per gram hemoglobin. For comparative purposes, with normal adult cells, it is of little consequence which method of expression is used. However, cells with an abnormally low hemoglobin content (e.g., in thalassemia or iron deficiency) will give anomalously high enzyme activities when expressed per gram hemoglobin. A similar anomaly will arise with microcytosis if activities are expressed per milliliter cells. It is therefore desirable to determine red cell indexes and to make sure that abnormalities in these are not the cause of an apparently abnormal SOD activity. Another example where the means of expression can affect interpretation is the comparison of adult with fetal red cells, which are larger and contain more hemoglobin.7,8 They contain only two thirds the adult level of SOD when related to hemoglobin content, but on a per cell basis, the difference is considerably less.
Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State
Published in Hemoglobin, 2020
Nikita Mehta, J. Martin Johnston, Molly Hein, Benjamin R. Kipp, Lea Coon, Michelle E. Savedra, James D. Hoyer, Rong He, Aruna Rangan, Min Shi, Jennifer L. Oliveira
A 3-year-old male patient presented with persistent microcytosis and anemia. The proband and his 9-year-old sister are offspring of a Turkish mother and English father. The past medical history and physical examination were otherwise unremarkable, with no evidence of splenomegaly. The boy had two previously normal Hb electrophoreses performed at another institution. The complete blood count (CBC) data showed: RBC count of 4.9 × 1012/L, Hb of 9.7 g/dL, packed cell volume (PCV) of 0.31 L/L, mean corpuscular volume (MCV) of 63.4 fL, and RBC distribution width of 15.0%. Iron studies showed a mildly decreased ferritin of 10.2 μg/L (normal range 24.0–336.0 μg/L), iron of 82.0 μg/dL, and total iron binding capacity of 395.0 μg/dL. The degree of microcytosis and anemia was not felt to be fully explained by the mixed iron study results and further evaluation was performed.
Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene
Published in Hemoglobin, 2020
Paloma Ropero, Jaime Arbeteta, Jorge M. Nieto, Fernando A. González, Beatriz González, Ana Villegas, Celina Benavente
The first patient was a 39-year-old male and the second was a 23-year-old female; both were from Morocco. They were examined for persistent microcytosis. Hematological parameters were determined using an automated cell counter (Coulter LH750 Analyzer; Beckman Coulter, Brea, CA, USA) and the results confirmed mild anemia with significant microcytosis and hypochromia (Table 1). Hb A2 and Hb F levels were measured using high-performance liquid chromatography (HPLC) (VARIANT™; Bio-Rad Laboratories, Hercules, CA, USA); all values were normal. Screening for hemoglobin (Hb) variants by capillary electrophoresis (CE) using the Sebia CapillaryS Flex system (Sebia, Norcross, GA, USA) and ion exchange HPLC analysis β-Thalassemia Short Program (Bio-Rad Laboratories) were unremarkable, and the ferritin level was in the normal range, thus excluding iron deficiency as the cause of microcytosis.
Anemia and transfusion requirements among Ugandan children with severe malaria treated with intravenous artesunate
Published in Pediatric Hematology and Oncology, 2020
Michael T. Hawkes, Robert O. Opoka, Andrea L. Conroy, Robyn E. Elphinstone, Heather A. Hume, Sophie Namasopo, Kevin C. Kain
Uganda is a high burden country for malaria and anemia, with a prevalence of anemia (Hb < 110g/L) among children under five in the general population reported at 72% (2006) and 60% (2009, Uganda Malaria Indicator Survey) respectively,21 compared to a global prevalence of 43% (2011).22 Our study, in a selected group of children with acute malaria, found a rate of anemia of 97% at hospital admission with 22% having life-threatening SMA. Incomplete laboratory investigations limit our ability to discern the mechanism of anemia in this cohort. Nonetheless, it is tempting to speculate on the processes underlying the anemia, based on the following observations. The microcytosis observed in our cohort may be due to iron deficiency and/or alpha-thalassemia, common in children under 5 in low-income settings.21,23 Similarly, microcytic hypochromic anemia accounted for 38% of all anemia cases among children hospitalized in a recent study from Tanzania24 andiron supplementation improved hematologic abnormalities in children with acute falciparum malaria in a recent clinical trial.25 In addition, jaundice, tea-colored urine, elevated admission LDH, and low haptoglobin, particularly in those the lowest Hb levels and prior to intravenous artesunate exposure, suggest that parasite-induced hemolysis may have contributed to severe anemia at presentation. The frequent observation of nucleated RBCs and high RDW at admission, which reduced significantly by day 14, may indicate an acute marrow stress response.