Prevalence of pulmonary hypertension in hereditary spherocytosis

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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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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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Hereditary 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...

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Prevalence of Pulmonary Hypertension

Study objectives: To characterize the prevalence ofundiagnosedpulmonary hypertension in patients with limited and diffuse scleroderma. Design: Prospective cross-sectional study. Setting: University-based outpatient clinic. Patients: Thirty-four consecutive patients with limited (n=29) or diffuse (n=5) scleroderma but without the clinical diagnosis of pulmonary hypertension. Measurements and res...

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Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene

There is some question about the relationship between hereditary spherocytosis (HS) and pulmonary arterial hypertension, even associated with splenectomy. The finding of BMPR2 mutations in our patient suggests that other factors are necessary for the development of the disease, and perhaps, the incidence of pulmonary hypertension is not increased in patients with HS.

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ژورنال

عنوان ژورنال: American Journal of Hematology

سال: 2011

ISSN: 0361-8609

DOI: 10.1002/ajh.22182