The Experts below are selected from a list of 7437 Experts worldwide ranked by ideXlab platform
Patrick G Gallagher - One of the best experts on this subject based on the ideXlab platform.
-
Red Cell Membrane Disorders
2015Co-Authors: Red Cells, Patrick G GallagherAbstract:Disorders of the erythrocyte membrane, including hereditary Spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, and hereditary stomato-cytosis, comprise an important group of inherited hemolytic anemias. These syndromes are character-ized by marked clinical and laboratory heterogeneity. Recent molecular studies have revealed that there is also significant genetic heterogeneity in these disor-ders. This is particularly true for the Spherocytosis syndromes where each kindred has a private mutation in one of the Spherocytosis genes. Treatment with splenectomy is curative in most patients. Splenectomy via a laparoscopic approac
-
Hereditary Spherocytosis.
Lancet (London England), 2008Co-Authors: Silverio Perrotta, Patrick G Gallagher, Narla MohandasAbstract: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 anaemia requiring erythrocyte transfusion. The primary lesion in hereditary Spherocytosis is loss of membrane surface area, leading to reduced deformability due to defects in the membrane proteins ankyrin, band 3, beta spectrin, alpha spectrin, or protein 4.2. Many isolated mutations have been identified in the genes encoding these membrane proteins; common hereditary Spherocytosis-associated mutations have not been identified. Abnormal spherocytes are trapped and destroyed in the spleen and this is the main cause of haemolysis in this disorder. Common complications are cholelithiasis, haemolytic episodes, and aplastic crises. Splenectomy is curative but should be undertaken only after careful assessment of the risks and benefits.
-
hematologically important mutations ankyrin variants in hereditary Spherocytosis
Blood Cells Molecules and Diseases, 2005Co-Authors: Patrick G GallagherAbstract:The primary defect in the hereditary Spherocytosis (HS) syndromes is a qualitative or quantitative alteration in one or more erythrocyte membrane proteins. Mutation of the erythrocyte membrane protein ankyrin are the most common cause of typical, dominant HS. Ankyrin mutations also cause nondominant Spherocytosis due to ankyrin gene promoter or de novo mutations. In most cases, HS-related ankyrin mutations are private. A summary of reported HS-associated ankyrin gene mutations is provided in this report.
Takeshi Nakada - One of the best experts on this subject based on the ideXlab platform.
-
Open heart operation in a young child with Spherocytosis
The Annals of thoracic surgery, 1994Co-Authors: Youichi Kawahira, Hidefumi Kishimoto, Masahiko Lio, Seiichiro Ikawa, Hideki Ueda, Futoshi Kayatani, Takeshi NakadaAbstract:Open heart operations on patients with hereditary Spherocytosis have been reported rarely. Young children who have not yet undergone splenectomy have a high risk of intraoperative hemolysis because of the heart-lung machine and secondary renal failure. We report the case of a 15-month-old child with Spherocytosis who underwent an open heart operation without serious complications as a result of careful and appropriate perioperative management.
Satoshi Ambiru - One of the best experts on this subject based on the ideXlab platform.
-
Partial splenic embolization for the treatment of hereditary Spherocytosis.
AJR. American journal of roentgenology, 2003Co-Authors: Fumio Kimura, Hiroshi Ito, Hiroaki Shimizu, Akira Togawa, Masayuki Otsuka, Hiroyuki Yoshidome, Fumihiko Shimamura, Atsushi Kato, Yuji Nukui, Satoshi AmbiruAbstract:OBJECTIVE. Splenectomy is the standard surgical treatment for hereditary Spherocytosis, but partial splenic embolization is another potential option. We retrospectively studied the therapeutic effects of partial splenic embolization as a treatment for hereditary Spherocytosis.CONCLUSION. Partial splenic embolization is a safe and effective alternative to splenectomy or partial splenectomy in the treatment of hereditary Spherocytosis.
Youichi Kawahira - One of the best experts on this subject based on the ideXlab platform.
-
Open heart operation in a young child with Spherocytosis
The Annals of thoracic surgery, 1994Co-Authors: Youichi Kawahira, Hidefumi Kishimoto, Masahiko Lio, Seiichiro Ikawa, Hideki Ueda, Futoshi Kayatani, Takeshi NakadaAbstract:Open heart operations on patients with hereditary Spherocytosis have been reported rarely. Young children who have not yet undergone splenectomy have a high risk of intraoperative hemolysis because of the heart-lung machine and secondary renal failure. We report the case of a 15-month-old child with Spherocytosis who underwent an open heart operation without serious complications as a result of careful and appropriate perioperative management.
Fumio Kimura - One of the best experts on this subject based on the ideXlab platform.
-
Partial splenic embolization for the treatment of hereditary Spherocytosis.
AJR. American journal of roentgenology, 2003Co-Authors: Fumio Kimura, Hiroshi Ito, Hiroaki Shimizu, Akira Togawa, Masayuki Otsuka, Hiroyuki Yoshidome, Fumihiko Shimamura, Atsushi Kato, Yuji Nukui, Satoshi AmbiruAbstract:OBJECTIVE. Splenectomy is the standard surgical treatment for hereditary Spherocytosis, but partial splenic embolization is another potential option. We retrospectively studied the therapeutic effects of partial splenic embolization as a treatment for hereditary Spherocytosis.CONCLUSION. Partial splenic embolization is a safe and effective alternative to splenectomy or partial splenectomy in the treatment of hereditary Spherocytosis.
