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

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 ?
Bianchi, "A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia," Clinical Laboratory, vol.
Olcay, "Hemolytic crisis as the initial presentation of hereditary spherocytosis induced by parvovirus B19 and herpes virus infection in a patient with the thalassemia trait: a case report," Turkish Journal of Hematology, vol.
Hereditary spherocytosis in sisters unmasked by parvovirus infection.
The familial aplastic crisis in hereditary spherocytosis. Urocanic acid and formiminoglutamic acid excretion studies in a case with megaloblastic arrest.
Hereditary spherocytosis: from clinical to molecular defects.
Hereditary spherocytosis: a review of the clinical and molecular aspects of disease.
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with hereditary spherocytosis. Ann Hematol 2001; 80 (1): 38-40.
Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassemia trait: partial correction of HS phenotype.
coexixstence of hereditary spherocytosis and beta-thalassemia: case report of severe haemolytic anemia in an American black.
It was followed by hereditary spherocytosis with 29.4% (5/17) and refractory Idiopathic Thrombocytopenic Purpura having 11% (2/17) of the cases.
HEREDITARY SPHEROCYTOSIS: Hereditary spherocytosis was seen in 29.4% of cases (5/17) (Table 3) between the age groups of 11-12 years and male to female ratio was 4:1 clearly showing male preponderance.
Fifty-nine patients with acute leukemia (47 ALL, 12 acute myeloblastic leukemia), 6 with thalassemia major and 1 with severe hereditary spherocytosis were enrolled in the study.

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