Flow Cytometric Test with Eosin-5-Maleimide for a Diagnosis of Hereditary Spherocytosis in a Newborn
A term male newborn born to a mother who had hereditary spherocytosis presented with neonatal jaundice at 20 hours of life. Complete blood count showed hemoglobin 17.1 g/dL, MCV 104.2 fL, MCH 32.9 pg, and MCHC 31.6 g/dL.
Kanda Fanhchaksai +4 more
doaj +1 more source
Laparoscopic splenectomy experience in the University Hospital ‘‘Dr. José Eleuterio González’’ [PDF]
To present the laparoscopic splenectomy (LS) experience at the ‘‘Dr. José E. González’’ University Hospital from January 2008 to October 2014. Methods: Retrospective and descriptive analysis of clinical and surgical aspects of all patients who underwent ...
Akwari +16 more
core +1 more source
Objective: The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis.Methods: We utilized whole-exome sequencing (WES) for individual analysis (case 1) and ...
Ting Xiong +6 more
doaj +1 more source
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 [PDF]
Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined.
Alliosio, N +11 more
core
Extramedullary paraspinal hematopoiesis in hereditary spherocytosis
Hereditary spherocytosis (HS) is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production.
Gogia P, Goel R, Nayar S
doaj
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias
Congenital haemolytic anaemias are inherited disorders caused by red blood cell membrane and cytoskeletal protein defects, deviant hemoglobin synthesis and metabolic enzyme deficiencies.
Polina Petkova-Kirova +11 more
doaj +1 more source
Bleeding jejunal varices and portal thrombosis in a splenectomized patient with hereditary spherocytosis [PDF]
Bleeding from varices located in the small bowel is a very uncommon finding; nonetheless, such events accompany with a high mortality rate (1– 4). Moreover, early diagnosis of jejunal or ileal varices cannot usually be accomplished with standard ...
BERTOLOTTI, Marco +5 more
core
Haematalogical investigations in children [PDF]
The haematology laboratory is able to perform a number of tests to help establish the cause of illness in children. The full blood count (FBC, also known as a complete blood count, CBC) is one of the most basic blood tests performed on children ...
Chalmers, E.A., Halsey, C.
core
Hyposplenism in gastro-intestinal disease [PDF]
The hazards of living without a spleen were recognised by the paediatricians in the early 1960’s when they focussed attention on the syndrome of fulminant sepsis, often due to pneumococcal infection, occurring in young children within the first two years
Muller, Andre F., Toghill, P. J.
core +1 more source
Portal vein thrombosis after laparoscopic splenectomy: an ongoing clinical challenge. [PDF]
ObjectivesPortal vein thrombosis (PVT) following open splenectomy is a potentially lethal complication with an incidence of up to 6%. The objective of this report is to describe our management of a recent laparoscopic case, discuss current therapies, and
Kee, Stephen T +4 more
core +2 more sources

