Testing for hereditary spherocytosis: a French experience
نویسندگان
چکیده
منابع مشابه
Hereditary spherocytosis.
Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia. Some individuals are asymptomatic, whereas others have severe haemolytic...
متن کاملHereditary spherocytosis.
Hereditary spherocytosis is a congenital haemolytic anaemia due to defect in spectrin-a RBC membrane protein and is transmitted as autosomal dominant. Due to this defect there is presence of characteristic spherical cell in peripheral blood smear and osmotic fragility is increased. Haemolytic anaemia, reticulocytosis, jaundice and splenomegaly are present. This article reports a case of a 9 yea...
متن کاملHereditary Spherocytosis
A 12-year-old girl was brought to the Dhaka Hospital of ICDDR,B with diarrhoea. Incidentally, the parents provided a history of repeated episodes of pallor and jaundice since she was two and half years old. Three of her family members had similar problems. History, clinical examination, and laboratory findings of the girl and her family members suggested a case of hereditary spherocytosis. To o...
متن کاملFlow cytometry test for hereditary spherocytosis.
We read with interest the recent article of Bianchi et al. published in Haematologica that compared laboratory tests for hereditary spherocytosis (HS) in 150 patients. The authors reported the usefulness of the eosine-5maleimide binding (EMA) test in the diagnosis of HS with high sensitivity and specificity, and confirmed, as we had previously reported, that this test was independent of the typ...
متن کاملHereditary spherocytosis with immunoglobulin A nephropathy.
Hereditary spherocytosis is a familial hemolytic anemia. Immunoglobulin A (IgA) nephropathy associated with hereditary spherocytosis has not been reported in children. Here, we report a case of a 17-year-old boy with IgA nephropathy and hereditary spherocytosis. The patient was diagnosed with hereditary spherocytosis at the age of 12 years and splenectomy was done at the age of 15 years. Later,...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2012
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.2012.074070