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Metals
Published in Frank A. Barile, Barile’s Clinical Toxicology, 2019
Anirudh J. Chintalapati, Frank A. Barile
Pb interferes with heme biosynthesis by meddling with ferrochelatase, ALAS (δ-aminolevulinic acid synthetase), and ALAD (δ-aminolevulinic acid dehydratase) (Figure 26.7). The net effect is accumulation of protoporphyrin in RBCs and decreased formation of hemoglobin due to defective heme assembly. Clinically, patients manifest with basophilic stippling (due to accretion of polyribosomes and RNA aggregates in RBCs), which is noticeable on a Gram-stain RBC smear at 100× magnification. In addition, defective heme synthesis results in increased production of reticulocytes (immature RBCs), which is demonstrated by stippled cell cytoplasm and microcytic hypochromic anemia.
Purine, pyrimidine and porphyria disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
The symptoms of pyrimidine 5′-nucleotidase deiciency may present at any age. The main symptom is non-spherocytic haemolytic anaemia, characterised by basophilic stippling. Other indings may include an enlarged spleen (splenomegaly), enlarged kidneys, gallstones, and the excretion of iron in the urine. There may be an increase in the number of immature red blood cells (reticulocytosis), and red blood cells may be unequal in size (anisocytosis). Additional findings include an increase in the yellowish pigment found in bile (bilirubin), and increased levels of glutathione in the red blood cells.
Assessing the Toxic Load and Detoxification Strategies
Published in Len Wisneski, The Scientific Basis of Integrative Health, 2017
Basophilic stippling refers to a unique appearance of red blood cells observed under a microscope in which the erythrocytes display small dots at the periphery. Stippling is a classic sign of lead poisoning as well as arsenic poisoning.
Unregulated supplement use causing insidious lead toxicity
Published in Baylor University Medical Center Proceedings, 2023
Grant Manh-tri Pham, Anuj Sharma
A 53-year-old woman of South Asian descent with known thalassemia minor presented to her primary care provider with fatigue, was diagnosed with thalassemia, and was referred to hematology/oncology. However, prior to the specialist appointment, she felt more fatigued and presented to the emergency department. Her hemoglobin was 7.4 g/dL. She was transfused two units of packed red blood cells and remained hemodynamically stable during her admission. She did not need any blood transfusions except for a prior left knee replacement. She was discharged and later seen by hematology/oncology. At the hematology appointment, additional laboratory tests were done, including a blood smear, low-density lipoprotein, haptoglobin, ferritin, hemoglobin electrophoresis, and hepatitis panel. The peripheral smear showed basophilic stippling, and lead levels were significantly elevated at 76 µg/dL. The patient was unsure of lead exposure. Since she was relatively asymptomatic, she was monitored for several months.
The relationship between blood lead level and the severity of abdominal pain in opioid-addicted patients during a hospital outbreak
Published in Journal of Addictive Diseases, 2018
Fatemeh Doodkanloy Milan, Mehdi Torabi, Moghaddameh Mirzaee
Complete blood count (CBC), BLL and serum uric acid level were determined using venous blood samples. The presence of basophilic stippling was assessed by evaluating peripheral blood smear. Abdominal X-ray was performed to identify possible radio-opaque lead elements in the abdomen. Opioids were used as the first line therapies to primarily relieve the pain in those with severe abdominal pain who had no contraindications. The outpatients with relieved pain who were watched for several hours and had no symptoms of intestinal obstruction or acute abdomen requiring surgery were provided methadone methadone maintenance treatment (MMT). They were further scheduled for outpatient follow-up appointments.
Fooled by the fragments: vitamin B12 deficiency masquerading as thrombotic thrombocytopenic purpura
Published in Journal of Community Hospital Internal Medicine Perspectives, 2021
Pegah Jahangiri, Rachel Hicks, Prabjot K. Batth, Christopher J. Haas
Examination revealed a fatigued-appearing African-American male with conjunctival pallor who was afebrile, mildly tachycardic (100–110 beats per minute), and hypertensive (SBP 160–180 mmHg), with a preserved ambient-air oxygen saturation. Cardiopulmonary examination was notable only for a flow murmur best appreciated at the upper sternal border with delayed capillary refill. There was no evidence of hepatosplenomegaly, peripheral edema, nor rash. Neurological examination was unremarkable with preserved strength, gait, proprioception, sensation (fine touch and pain), and reflexes. Diagnostic evaluation revealed pancytopenia (white blood cell count of 3.6 k/uL, a hemoglobin of 4.6 g/dL, and a platelet count of 74 k/uL) (Table 1). His marked anemia was notably macrocytic (MCV 128 fL) with an elevated distribution width (RDW 19.5% [normal range, 11.5 to 15.5]) and reticulocyte hypo-proliferation (1.8%; Reticulocyte Index 0.23). Peripheral blood smear demonstrated no atypical lymphocytes, nor any evidence of abnormal platelets; however, red blood cell morphology included ovalocytes, target cells, moderate schistocytes, and teardrop cells. Basophilic stippling and hyper-segmented neutrophils were also seen (Figure 1). Metabolic panel demonstrated a mildly elevated AST (65 units/L) with a normal ALT, a mildly elevated total and indirect bilirubin (1.2 mg/dL [0.1–1.0 mg/dL] and 0.86 mg/dL, respectively), and a normal alkaline phosphatase (76 units/L). Lactate dehydrogenase was markedly elevated (3000 units/L) with a low serum haptoglobin (<8 mg/dL). Prothrombin time, partial thromboplastin time, INR, and D-Dimer were mildly elevated (20.3 sec, 40.2 sec, 1.7, and 1.15 mcg/mL, respectively), with a normal fibrinogen. There was no evidence of a gamma gap. Diagnostic imaging included a CT of the chest, abdomen, and pelvis that showed no evidence of pulmonary embolism, nor organomegaly/adenopathy, but the presence of a shrunken, nodular appearing liver and left lingular pneumonia.