Anaemia: deficiency of erythrocytes, causing tiredness, weakness and pallor
Angina: chest pain or discomfort due to coronary heart disease
Apoptosis: the process of programmed cell death
Auer rods: a rod-like conglomeration of granules in the cytoplasm
Azurophilic: readily stainable with an azure dye
Basophilia: abnormally high level of basophils
Blasts: immature cells with characteristic morphological appearances
Chromosome deletion: part of a chromosome is lost during DNA replication
Chromosome duplication: part of a chromosome is duplicated, creating one or more copies of that chromosomal region, which may include a gene or even an entire chromosome
Chromosome inversion: a section of a chromosome breaks and is then rearranged end to end within itself
Chromosome translocation: two sections of two different chromosomes break off and swap places
Coagulopathy: bleeding disorder in which the blood’s ability to clot is impaired
Complex karyotype: a karyotype that demonstrates multiple chromosomal mutations
Cytogenetics: the analysis of the number, structure and functional changes of chromosomes using microscopic analysis
Cytopenia: a reduction in the number of mature blood cells
Differentiation: the process by which cells change to acquire specialised features that serve a specific function
Disseminated intravascular coagulation: systemic activation of blood coagulation, resulting in the generation and deposition of fibrin in the body
Dysplasia: abnormal growth or development of cells
Dyspnoea: shortness of breath
Exon:a coding section of a gene
Hepatosplenomegaly: abnormal enlargement of both the liver (hepatomegaly) and the spleen (splenomegaly)
Hilar lymphadenopathy: abnormal enlargement of the lymph nodes in the pulmonary hila (the wedge-shaped central portion of each lung where the bronchi, arteries, veins and nerves enter and exit the lungs)
Hyper/hypodiploidy: having more or less than the usual diploid number of chromosomes
Hypogammaglobulinaemia: deficiency of immunoglobulins (antibodies) resulting in immunodeficiency
Immunophenotype: the characteristics of a cell in terms of its surface antigens from which its cell lineage can be determined
Interphase: the phase of a cell’s cycle in which DNA is copied in preparation for mitosis
Leucocytosis: increase in the number of white blood cells
Leucostasis: extremely elevated blast cell count and symptomatic decreased tissue perfusion
Leukaemogenesis: the induction or production of leukaemia
Lymphadenopathy: abnormal enlargement of the lymph nodes
Metaphase: the phase of a cell’s cycle in which the duplicated chromosomes line up at the centre of the cell
Minimal residual disease: subclinical levels of leukaemia either during or after treatment
Molecular genetics: the study of genes and chromosomes at the DNA molecule level (e.g. DNA sequence variations, mutations in sequences, gene locations)
Neutropenia: reduced number of neutrophils in the blood
Next-generation sequencing: also known as high-throughput sequencing, is the term used to describe a number of different gene sequencing technologies
Normoblast: immature red blood cell containing haemoglobin and a pyknotic nucleus
Pancytopenia: deficiency of red blood cells, white blood cells and platelets
Pathognomonic: a feature that is characteristic or diagnostic of a particular disease
Petechiae: small round spots of variable colour on the skin, caused by bleeding
Purpura: small purple spots just under the skin surface caused by a small amount of local bleeding
Pyknotic nucleus: degeneration of the nucleus of a cell, in which the nucleus shrinks in size and the chromatin condenses to a solid, structureless mass
Reniform: kidney-shaped
Sepsis: a potentially life-threatening condition that arises when the body’s response to infection causes damage to its own tissues and organs
Single nucleotide polymorphism: the most common type of genetic variation, representing a difference in a single DNA building block called a nucleotide, e.g. a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA
Splenomegaly: abnormal enlargement of the spleen
Thrombocytopenia: low platelet count
Trisomy: the presence of an additional chromosome; for example, trisomy 21 refers to an individual with three number 21 chromosomes rather than the usual pair (trisomy 21 is also known as Down’s syndrome)
