Basophilic stippling

Fig. 6. Basophilic stippling in peripheral blood smear of a patient with pyrimidine 5 -nucleotidase deficiency.

Pyrimidine 5 -nucleotidase (P5N) deficiency appears to be the third most common cause of hereditary nonspherocytic hemolytic anemia after G6PD and PK deficiencies. To date, more than 42 cases have been reported worldwide (FI 1) since the first report by Valentine et al. (V4). This syndrome is characterized by hemolytic anemia, pronounced basophilic stippling of red blood cells (Fig. 6), and a... 

NS (occup) Hematological Decreased hemoglobin with or without basophilic stippling of erythrocytes 240 Awad et al. 1986 Baker et al. 1979 Grandjean 1979 Lilis et al. 1978 Pagliuca et al. 1990 Tola et al. 1973 Wada et al. 1973... 

There is no clinical disease state that is pathognomonic for lead exposure. The neurotoxic effects and hematopoietic effects of lead are well recognized. The primary biomarkers of effect for lead are EP, ALAD, basophilic stippling and premature erythrocyte hemolysis, and presence of intranuclear lead inclusion bodies in the kidneys. Of these, activity of ALAD is a sensitive indicator of lead exposure (Hemberg et al. 1970 Morris et al. 1988 Somashekaraiah et al. 1990 Tola et al. 1973), but the assay can not distinguish between moderate and severe exposure (Graziano 1994). Sensitive, reliable, well-established methods exist to monitor for these biomarkers however, they are not specific for lead exposure. Therefore, there is a need to develop more specific biomarkers of effect for lead. Recent data... 

ALAD depression, 86% anemia basophilic stippling of erythrocytes... 

Acute inorganic lead poisoning is uncommon today. It usually results from industrial inhalation of large quantities of lead oxide fumes or, in small children, from ingestion of a large oral dose of lead in the form of lead-based paint chips small objects, eg, toys coated or fabricated from lead or contaminated food or drink. The onset of severe symptoms usually requires several days or weeks of recurrent exposure and manifests as signs and symptoms of encephalopathy or colic. Evidence of hemolytic anemia (or anemia with basophilic stippling if exposure has been subacute), and elevated hepatic aminotransferases may be present. 

DAMAGED MITOCHONDRIA IMMATURE Ifcc FRAGMENTS (BASOPHILIC STIPPLED CELLS)... 

The hematopoietic system is affected by both short- and long-term arsenic exposure. Arsenic is known to cause a wide variety of hematological abnormalities like anemia, absolute neutropenia, leucopenia, thrombocytopenia, and relative eosinophilia - more common than absolute esino-philia, basophilic stippling, increased bone marrow vascularity, and rouleau formation (Rezuke et al, 1991). These effects may be due to a direct hemolytic or cytotoxic effect on the blood cells and a suppression of erythropoiesis. The mechanism of hemolysis involves depletion of intracellular GSH, resulting in the oxidation of hemoglobin (Saha et al, 1999). Arsenic exposure is also known to influence the activity of several enzymes of heme biosynthesis. Arsenic produces a decrease in ferrochelatase, and decrease in COPRO-OX and increase in hepatic 5-aminolevulinic acid synthetase activity (Woods and Southern, 1989). Subchronic... 

Pyrimidine-5 -nucleotidase effects the release of phosphate from cytidine-5 -monophosphate and uridine-5 -monophosphate and thus is an enzyme involved in the catabolism of RNA. RNA is a normal constituent of reticulocytes but not of mature RBCs. In the absence (or notable deficiency) of P-5 -N, RNA persists in RBCs and is manifested by striking basophilic stippling and mild to moderate hemolytic anemia. 

HPLC analysis shows a large Hb F peak with a reduced Hb A peak. Hb Aa is above the reference interval at concentrations greater than those associated with P-thalassemia minor. Bands in the A and F positions are seen on electrophoresis at both alkaline and acid pH. The Hb is significantly reduced (60 to 100 g/L). The peripheral blood smear shows the same features as p -thalassemia, including aniso-cytosis, hypochromia, target cells, basophilic stippling, and nucleated RBCs. 

Other Facial pallor, anemia, basophilic stippling of red blood cells, muscular wasting, arthralgia, myalgia, hypertension, sterility, gout, miscarriage, stillbirth, inhibition of vitamin D levels, psychiatric symptoms (see Table 8-4)... 

Blood lead levels provide the best indicators of lead poisoning but do not reflect total body burden (Lee and Moore 1990). The inhibition of erythrocyte 8-aminolevulinic acid indicates lead exposure, but most centers still use blood lead levels for screening (Lee and Moore 1990 Roper et al. 1993 Schaffer and Campbell 1994). Zinc protoporphyrin indicates neurotoxicity from lead but does not have the sensitivity for assessing low levels of exposure (Anger and Johnson 1985 Royce and Needleman 1995). Radiological examination of the abdomen and long bones does not reliably portray exposure. The same holds true for the examination of red blood cells for basophilic stippling and the assay of hair and nail levels for lead (Roper et al. 1993). The Centers for Disease Control and Prevention (CDC) does not recommend use of scarification of the forearm with 25% sodium sulfite solution to assess for black discoloration of skin, a procedure recommended in some sources. Medical centers perform an edetate disodium calcium provocative chelation test with urinalysis and complete blood... 

Bone marrow depression, anemia, leukopenia, and basophilic stippling are associated with chronic arsenic exposure. Arsine (AsHj) poisoning can produce widespread hemolysis. Cirrhosis, ascites, and destruction of renal tissues have been reported. Arsine exposure may also cause renal failure (Forth et al. 1996). 

Hematologic effects. Pancytopenia, particularly leukopenia and anemia, characteristically develops within 1-2 weeks after acute ingestion. A relative eosinophilia may be present, and there may be basophilic stippling of red blood cells. 

B. Other useful laboratory studies include CBC with differential and smear for basophilic stippling, electrolytes, glucose, BUN and creatinine, liver enzymes, CPK, urinalysis, EGG and EGG monitoring, and abdominal and chest x-rays. 

Hematoiogic effects include normochromic or microcytic anemia, which may be accompanied by basophilic stippling. Hemolysis may occur. 

E. Other tests. Nonspecific laboratory findings that support the diagnosis of lead poisoning include anemia (normocytic or microcytic), and basophilic stippling of erythrocytes, a useful but insensitive clue. Acute high-dose exposure may sometimes be associated with transient azotemia (elevated BUN and serum creatinine) and mild to moderate elevation in serum transaminases. Recently ingested lead paint, glazes, chips, or solid lead objects may be visible on abdominal x-rays. CT or MRI of the brain often reveals cerebral edema in patients with lead encephalopathy. Because iron deficiency increases lead absorption, iron status should be evaluated. 

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