Glossary: Epidemiology, aetiology and risk factors

Allogeneic stem cell transplantation: the transplantation of stem cells from a healthy person (donor) to a patient after high-intensity chemotherapy or radiation

Blasts: immature cells with characteristic morphological appearances

Cohesin complex: a protein complex that regulates the separation of chromatids (thread-like strands into which a chromosome divides) during cell division

Cytopenia: a reduction in the number of mature blood cells

Epigenetics: modification of gene expression, rather than alteration of the gene code itself

Germline: mutations in these cells are mutations that can be passed to offspring

Guthrie card: the concept that capillary blood from neonates could be used to screen for metabolic diseases was introduced in Scotland by Robert Guthrie in 1963; Guthrie card samples (neonatal heel prick tests) are now collected routinely in about 20 countries

Haematopoiesis: blood cell development

Hepatosplenomegaly: abnormal enlargement of both the liver (hepatomegaly) and the spleen (splenomegaly)

Heterozygous mutation: a mutation that occurs in only one copy of a gene, not both copies (homozygous)

Immunodeficient: unable to produce a normal immune response

Incidence: the number of new cases (or newly diagnosed cases) of a disease in a given period of time, usually a year

Indolent: slow growing

Lymphadenopathy: abnormal enlargement of the lymph nodes

Megakaryocyte: a large cell with a lobulated nucleus, usually found in the bone marrow, which produces platelets

Monocytopenia: a reduction in the number of monocytes in the blood

N-terminus: one end of a protein or polypeptide, which has an amine group on the alpha carbon

Prevalence: the total number of cases of a disease either during a period of time (period prevalence) or at a particular date (point prevalence)

Progenitor cell: a cell that can differentiate into another cell (it is usually more limited than a stem cell in the kinds of cells it can become)

Transcription factor: a protein that controls the rate of conversion of genetic information in DNA into messenger RNA, i.e. the level of gene expression.

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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