Old and new insights into the diagnosis of hereditary spherocytosis

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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...

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Guidelines 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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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...

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New insights into the diagnosis of lymphomas.

The current diagnosis of lymphoid neoplasias is based on the criteria of the World Health Organization (WHO) classification. This framework is built on two major principles: the stratification of neoplasms according to their derivation from precursor or mature cells and the definition of clinically relevant nonoverlapping diseases. The diagnosis is established by integrating the clinical, morph...

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Hereditary 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...

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ژورنال

عنوان ژورنال: Annals of Translational Medicine

سال: 2018

ISSN: 2305-5839,2305-5847

DOI: 10.21037/atm.2018.07.35