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.
47, XXY is the way in which the karyotype of a person with Klinefelter syndrome is written. It contains information on the total number of chromosomes present as well as the sex chromosomes. Most men with KS have an extra copy of the X chromosome (47, XXY) instead of the more usual 46 chromosomes that include one X and one Y chromosome (46,XY).
Risk: The probability that a particular family member will be affected by a genetic disorder which has occurred in the family.
An abscess is a collection of pus which can occur in almost any part of the body, treated with antibiotics and drainage.
Briefly losing awareness of surroundings, possibly several times a day. Absences mainly affect children but can occur in adults.
A non-cancerous tumour.
A behaviour disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity.
(ALD) X-linked adrenoleukodystrophy is a disorder that occurs most often in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. People with this disorder often have progressive destruction of the fatty covering (myelin) that insulates nerves in the brain and spinal cord. They may also have a shortage of certain hormones caused by damage to the outer layer of the adrenal glands (adrenal cortex). This hormonal deficiency is known as adrenocortical insufficiency.
An inherited condition that causes urine to turn black when exposed to air. Ochronosis, a build-up of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. People with alkaptonuria typically develop arthritis in adulthood, particularly in the spine and large joints.
Complementary medicines and treatments include a wide range of treatments that are not usually used by most doctors in the UK. These treatments are sometimes described as alternative medicine.
Abbreviated form of the term amniocentesis. A procedure whereby a needle is introduced through the abdominal wall and into the pregnant uterus to obtain amniotic fluid. The procedure is most commonly used to obtain fetal cells to examine the fetal chromosomes or occasionally fetal DNA. The procedure is usually carried out at 16 weeks gestation