Hereditary spherocytosis: Consequences of delayed diagnosis
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چکیده
منابع مشابه
Hereditary spherocytosis: Consequences of delayed diagnosis
OBJECTIVE To determine whether patients with undiagnosed hereditary spherocytosis hospitalized for transfusions might have avoided hospitalization via earlier diagnosis. STUDY DESIGN Charts of all (N = 30) patients with hereditary spherocytosis seen in pediatric hematology at West Virginia University-Charleston were reviewed. Family and transfusion history and presence of neonatal jaundice we...
متن کاملHereditary 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 کاملGuidelines for the diagnosis and management of hereditary spherocytosis.
Hereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. It is relatively common in Caucasian populations; most affected individuals have mild or only moderate haemolysis. There is usually a family history, and a typical clinical and laboratory picture so that the diagnosis is often easily made without additio...
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ژورنال
عنوان ژورنال: SAGE Open Medicine
سال: 2014
ISSN: 2050-3121,2050-3121
DOI: 10.1177/2050312114547093