An inherited abnormality of the proteins that normally stabilize the membranes of red blood cells. Hereditary spherocytosis is a common cause of hemolytic anemia among people of northern European descent; it is found infrequently among blacks and members of other ethnic groups. In some cases, the defect appears spontaneously, with neither parent affected by the disease. About 1 in 5,000 people in the United States has the condition.
An autosomal dominant hemolytic anemia caused by a defect in the red blood cell membrane that makes the cell abnormally fragile and especially susceptible to changes in the concentration of osmoles in the blood. Affected cells are gradually destroyed in the spleen, resulting in splenic enlargement, jaundice, and anemia as well as a high incidence of gallstone disease. Surgical removal of the spleen prevents many of this condition’s complications but carries with it a risk of postoperative immune suppression.
An inherited disorder causing a chronic type of anemia characterized by a deficiency of red blood cells, stemming from an anomaly in the membrane of these blood cells.
A hereditary condition characterized by a heightened presence of abnormally petite, spherical red blood cells (known as spherocytes) within the bloodstream. These atypical cells are delicate and prone to fragmentation when blood traverses the spleen. Occasionally, the pace of red blood cell breakdown (hemolysis) surpasses the body’s ability to generate new cells within the bone marrow, culminating in anemia.
The identifiable indications of anemia, such as fatigue, breathlessness, and paleness, might emerge. Additional symptoms encompass jaundice (a yellowing of the skin and eyes) and an enlargement of the spleen. Periodically, crises arise (often prompted by infections), during which all symptoms intensify. A common complication of hereditary spherocytosis is the development of gallstones.
Spherocytosis is typically diagnosed through blood tests. Generally, the removal of the spleen (splenectomy) results in lasting improvement.