hereditary spherocytosis


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Related to hereditary spherocytosis: Hereditary elliptocytosis

spherocytosis

 [sfe″ro-si-to´sis]
the presence of spherocytes in the blood.
hereditary spherocytosis a congenital hereditary form of hemolytic anemia characterized by spherocytosis, abnormal fragility of erythrocytes, jaundice, and splenomegaly.

he·red·i·tar·y sphe·ro·cy·to·sis

[MIM*182900]
a congenital defect of spectrin [MIM*182860], the main component of the erythrocyte cell membrane, which becomes abnormally permeable to sodium, resulting in thickened and almost spheric erythrocytes that are fragile and susceptible to spontaneous hemolysis, with decreased survival in the circulation; results in chronic anemia with reticulocytosis, episodes of mild jaundice due to hemolysis, and acute crises with gallstones, fever, and abdominal pain; symptomatology is highly variable; autosomal dominant inheritance, caused by mutation in the ankyrin gene (ANK1) on 8p. However, as with elliptocytosis, there is an autosomal recessive form [MIM*270970], caused by mutation in the alpha-spectrin 1 gene (SPTA1) on chromosome 1q.

hereditary spherocytosis

hereditary spherocytosis

Spherocytosis Neonatology An AD condition characterized by ↑ osmotic fragility of red cells, autohemolysis, splenomegaly and mild anemia partially corrected by splenectomy; HS is linked to a defect in a 28 kD RBC membrane protein Management Splenectomy. Cf Spherocytosis.

he·red·i·tar·y spher·o·cy·to·sis

(hĕr-ed'i-tar-ē sfēr'ō-sī-tō'sis)
A congenital defect of spectrin, the main component of the erythrocytecell membrane, which becomes abnormally permeable to sodium, resulting in thickened and almost spheric erythrocytes that are fragile and susceptible to spontaneous hemolysis, with decreased survival in the circulation; results in chronic anemia with reticulocytosis, episodes of mild jaundice due to hemolysis, and acute crises with gallstones, fever, and abdominal pain.
Synonym(s): familial jaundice, spherocytic anemia.

hereditary spherocytosis

A genetic disorder of the red blood cells which tend to be spherical rather than disc-shaped and are unduly fragile, breaking easily to release HAEMOGLOBIN. This leads to ANAEMIA, and the scavenging of the destroyed red cells causes enlargement of the spleen (splenomegaly).

Hereditary spherocytosis (HS)

A blood disorder in which the red blood cells are relatively fragile and are damaged or destroyed when they pass through the spleen. Splenectomy is the only treatment for HS.
Mentioned in: Splenectomy

he·red·i·tar·y spher·o·cy·to·sis

(hĕr-ed'i-tar-ē sfēr'ō-sī-tō'sis) [MIM*182900]
Congenital defect of spectrin, the main component of the erythrocyte cell membrane; results in chronic anemia with reticulocytosis, episodes of mild jaundice due to hemolysis, and acute crises with gallstones, fever, and abdominal pain.
Synonym(s): chronic familial icterus, chronic familial jaundice.
References in periodicals archive ?
The familial aplastic crisis in hereditary spherocytosis.
Human parvovirus B19-induced transient pancytopenia in a child with hereditary spherocytosis.
Diagnosis of hereditary spherocytosis in newborn infants.
Neonatal manifestations of hereditary spherocytosis.
Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis.
Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis.
Spleen was markedly enlarged in cases of hereditary spherocytosis weighing between 500-1400 grams followed by [beta]-thalassemia weighing between 400-620 grams.
Spleen was moderately enlarged in hereditary spherocytosis, while mildly enlarged in cases of Idiopathic thrombocytopenic purpura.
1984)[6] reported hereditary spherocytosis (48%) as the most common indication of splenectomy followed by Idiopathic Thrombocytopenic Purpura (17%) and Hodgkin's disease (13%).
Combination of hereditary spherocytosis and hereditary beta-thalassemia: a family study.
Concurrence of hereditary spherocytosis and alpha thalassemia.
Interaction of hereditary spherocytosis and alpha thalassemia: a family study.

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