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Glossary of terms used on this site

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Term Definition
(sickle-cell) crisis

Sickle cell crisis (episodes of pain): Episodes of pain during a sickle cell crisis are one of the most common and upsetting symptoms of sickle cell anaemia.

A sickle cell crisis is triggered when the abnormal blood cells block the small blood vessels that supply the body’s tissue. This causes the cells in the affected tissue to start dying, resulting in swelling which irritates nearby nerve endings.

Sacral

Referring to the sacrum. The sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx (tailbone).

Sanfilippo syndrome

MPS III is a mucopolysaccharide disease and is also known respectively as Sanfilippo syndrome.

SCBU

A facility that provides health care for babies who are unwell or premature.

Scheie disease

Hurler, Scheie and Hurler/Scheie Disease are forms of Mucopolysaccharidosis Type 1 and are also known respectively as MPS IH, IS and HIS. For convenience, children most severely affected are said to have Hurler disease.

Scoliosis

A lateral (side-to-side) curvature of the spine, the presence of which is abnormal.It can be disfiguring because when the spine bends to the side, the vertebrae (the individual bones that make up the spine) become twisted and pull the ribs round with them, which sometimes form a "bulge" on the back and cause the shoulder blade to stick out.

Screening

Testing designed to identify individuals in a given population who are at higher risk of having or developing a particular disorder, or carrying a gene for a particular disorder.

Definition from Gene Tests: Glossary

Seizure

1: A sudden attack (as of disease); especially: the physical manifestations (as convulsions, sensory disturbances, or loss of consciousness) resulting from abnormal electrical discharges in the brain (as in epilepsy). 2: An abnormal electrical discharge in the brain.

Septicaemia

Septicaemia (another name for blood poisoning) refers to a bacterial infection of the blood

Severe combined immune deficiency

A group of rare inherited disorders that cause severe abnormalities of the immune system. This happens when white blood cells, responsible for fighting infection, are absent, low in number or working poorly. Their absence or poor function results in serious and often life threatening infections.

Sex chromosome

The sex chromosomes determine the sex of an individual. These are XX in women and XY in men. The non-sex chromosomes (numbered 1 to 22) are known as the autosomes.

Sib/sibling

Sister or brother.

Sickle cell anaemia

Sickle cell disease is an autosomal recessively inherited disorder of haemoglobin leading to a tendency of red blood cells to deform into ‘sickle’ shapes, especially with dehydration, infection and low oxygen states. This causes a chronic haemolytic anaemia, and recurrent acute painful crises, which can be life-threatening. More often referred to as sickle cell anaemia.

Sickle cell disease

Sickle cell disease is an autosomal recessively inherited disorder of haemoglobin leading to a tendency of red blood cells to deform into ‘sickle’ shapes, especially with dehydration, infection and low oxygen states. This causes a chronic haemolytic anaemia, and recurrent acute painful crises, which can be life-threatening. More often referred to as sickle cell anaemia.

Sigmoidoscopy

A sigmoidoscopy is an examination of the rectum and some of the large bowel using a device called a sigmoidoscope (a thin, flexible tube attached to a small camera and light). A sigmoidoscopy can also be used to remove small samples of suspected cancerous tissue so they can be tested in the lab. This is known as a biopsy.

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