Hereditary spherocytosis Health Dictionary

An inherited disorder in which there are a large number of unusually small, round red blood cells (spherocytes) in the circulation.

These abnormal red cells are readily broken up when blood passes through the spleen.

At times, the rate of red cell destruction exceeds the rate at which new cells can be made in the bone marrow, leading to symptoms of anaemia.

Other symptoms include jaundice and enlargement of the spleen.

Occasionally, crises occur (usually triggered by infection) in which all symptoms worsen.

Gallstones are a frequent complication.

Splenectomy usually leads to permanent improvement.... hereditary

the skeletal abnormalities, collectively, of *pseudohypoparathyroidism. These include short stature, abnormally short fingers and toes (particularly involving the fourth and fifth metacarpals and metatarsals), and soft-tissue calcification. [F. Albright (1900–69), US physician]... albright’s hereditary osteodystrophy

see exostosis.... hereditary multiple exostoses

(HNPCC, Lynch syndrome) an inherited disorder in which there is an increased incidence of colorectal *polyp formation, although to a lesser extent than in familial adenomatous *polyposis (FAP). HNPCC has also been associated with other types of tumour, particularly ovarian and endometrial tumours. This increased risk is due to inherited mutations that impair DNA mismatch repair.... hereditary nonpolyposis colorectal cancer

a group of rare inherited disorders characterized by recurrent attacks of fever and inflammation in the absence of infection. They include familial Mediterranean fever (see polyserositis), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), and the cryopyrin-associated periodic syndrome (CAPS). Causative gene mutations have been identified.... hereditary periodic fever syndromes

n. the presence in the blood of abnormally shaped red cells (*spherocytes). Spherocytosis may occur as a hereditary disorder (hereditary spherocytosis) or in certain haemolytic *anaemias.... spherocytosis