The Spectrum of SPTA1-Associated Hereditary Spherocytosis
نویسندگان
چکیده
منابع مشابه
Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia in people of North European ancestry, although people of every ethnic background are affected. Inheritance is autosomal dominant in approximately two-thirds of cases, the remaining cases represent autosomal recessive inheritance or de novo mutations, as shown in a survey of Italian HS patients with hematologically norma...
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 کاملHereditary spherocytosis-sicklemia in the Negro; case report and study of a Negro family having multiple instances of hereditary spherocytosis.
H EREDITARY SPHEROCYTOSIS in the Negro is a relatively rare occurrence. From a survey of the medical literature of the past 20 years, we have been able to collect 41 cases.1-’4 Some of these cases are subject to doubt as to whether they actually represent hereditary spherocytosis because of insufficient data or the presence of intercurrent disease.”12 It has been suggested by some authors that ...
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ژورنال
عنوان ژورنال: Frontiers in Physiology
سال: 2019
ISSN: 1664-042X
DOI: 10.3389/fphys.2019.00815