Glossary: Diagnosis

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)

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