Haematology

Haematology is the study of disorders of the blood, both malignant and non-malignant. The diagnosis of blood disease relies on morphology of blood and marrow, along with specialized assays which include coagulation, red cell enzymes, flow cytometry, cytogenetics, and other molecular assays. This chapter covers most of the diseases commonly encountered clinically and provides details relating to these specialized assays used in the modern haematology laboratory.

Red Cell Enzymes

Mutations leading to red cell enzyme deficiencies can be associated with diverse phenotypes that range from hemolytic anemia, methemoglobinemia, polycythemia, and neurological and developmental abnormalities. While most of these mutations occur sporadically, some such as common glucose-6-phosphate dehydrogenase (G6PD) mutants are endemic and rarely cause disease. Common G6PD mutants likely reached their prevalence because they provide some protection against severe malarial complications. In this review G6PD, pyruvate kinase, 5′ nucleotidase, and cytochrome b5 reductase deficiencies will be discussed in greater detail. Limitations of commonly used screening tests for detection of these disorders will also be emphasized, as well as emerging knowledge about non-enzymatic function of the glycolytic enzymes.

Amyl Nitrite Induced Acute Haemolytic Anaemia in HIV-Antibody Positive Man

Volatile nitrites (amyl and butyl) are popular recreational drugs, especially in the homosexual population. Haemolytic anaemia is a rare complication of nitrite inhalation and occurs when the reducing capacity of the red cell enzymes is overcome by the oxidizing effect of the nitrite. We describe here a patient with HIV infection who developed a profound haemolytic anaemia after repeated inhalation of large quantities of amyl nitrite.

The activity of erythrocyte enzymes and basic indices of peripheral blood erythrocytes from workers chronically exposed to mercury vapours

The influence of occupational exposure to mercury vapours on the activity of the red cell enzymes [glucose-6-phosphate dehydrogenase (G-6PD), acetylcholinesterase (AChE), glutathione reductase (GR) and superoxide dismutase (SOD)], as well as on peripheral blood indices [erythrocyte number (RBC), HCT, Hb, MCHC] and on serum concentrations of iron, ferritin, transferrin and total iron binding capacity (TIBC), was assessed. Studies were carried out on 46 men aged between 21 and 56 years ( X=39±10.4) exposed to mercury vapours during their work from 7 months to 32 years (=14.7±10.8). The control group consisted of 35 healthy workers aged between 20 and 54 years ( X=33.6±9.8) not exposed to chemical nor physical agents. In both groups studied, there were 50% and 34.3% smokers, respectively. The activity of studied red cell enzymes—G-6PD, AChE, GR and SOD—was estimated according to the colorimetric methods described by Beutler and expressed as international units per gram of hemoglobin (IU g Hb−1). Peripheral blood cell parameters were determined using an automatic cell counter. The concentration of serum iron and TIBC was determined using colorimetric methods (Beckman), while that of ferritin and transferrin by nephelometric methods. The time-weighted average (TWA) of mercury concentration in the air determined before the study was 0.0028 mg m−3. Statistical analysis of the data was performed using either the Cochran and Cox C-test or the Student's t-test. The medium mercury concentration in the urine was 77.44±48.15 μg 1−1. In the group exposed to mercury vapours, a significant decrease was found in G-6PD activity (23.9%, P<0.001), GR (18.8%, P<0.001), and SOD (5%, P<0.001) with a concomitant increase in AChE activity (35.9%, P<0.001) was found. Moreover, a statistically significant increase occurred in HCT and RBC, and a decrease in MCV and MCHC as well as increases of ferritin (130.9%, P<0.001), transferrin (118.4%, P<0.001) and TIBC (11.2%, P<0.05). Our results indicate that long-term exposure to mercury vapours induces changes in the activity of red cell enzymes—G-6PD, AChE, GR and SOD—and may also influence other important hematological parameters of the peripheral blood.