Congenital nonspherocytic hemolytic anemia cnsha is a rare spectrum of autosomal recessive disorders due to deficiency of enzymes of glycolysis and rbc. Pdf hereditary nonspherocytic haemolytic anaemia due to. Drugs causing haemolysis in g6pd deficiency subjects. Molecular basis of chronic nonspherocytic haemolytic anaemia. Congenital non spherocytic haemolytic anaemia listed as cnsha. What does hereditary non spherocytic hemolytic anemia mean.
Pdf a case report of congenital nonspherocytic hemolytic. In this patient, the anaemia was corrected by splenectomy. Nonspherocytic haemolytic anaemia pubmed central pmc. An hereditary hemolytic anemia is described which is normocytic and normochromic, transmitted as a mendelian dominant and not cured by. Reinvestigation revealed a nonspherocytic, familial, probably hereditary and possibly sexlinked hemolytic anemia. In the past splenectomy in this condition has been thought to be of questionable bene. The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited cause of hemolytic anemia, and may include jaundice, fatigue, lethargy, and pale skin. This variant is unique in that it has a normal electrophoretic mobility, michaelis constant for g6p and nadp, and a normal ph optimum, together with a marked increase in utilisation of the substrate 2 deoxy glucose6phosphate. Two females, heterozygous for the enzyme deficency, had evidence of a hemolytic anemia. Chronic nonspherocytic haemolytic anaemia due to congenital. Clinical symptoms usually include jaundice from high levels of bilirubin and pallor and fatigue from anemia. We report a case of g6pd guadalajara where splenectomy produced.
Anemia, hereditary nonspherocytic hemolytic nord national. Hereditary spherocytic anemia is a rare disorder of the surface layer membrane of red blood cells. The ane mia of hemolysis usually is normocytic, although a marked reticulocytosis can lead to an elevated measurement of mean corpuscular volume, because the average mean cor puscular volume of a reticulocyte is 150 fl. A family with congenital nonspherocytic hemolytic anemia associated with glucose6phosphate dehydrogenase g6pd deficiency was studied. Hereditary nonspherocytic hemolytic disease the american. This chapter focuses on the recognition and management of hemolysis in newborn infants table 7. Some of the common hemolytic anemias of childhood first appear in the newborn period, while. The authors have presented the problems in the diagnosis of an obscure anemia in two sisters which was apparently present at birth. The about 400 million individuals worldwide suffering from a hereditary deficiency of the enzyme glucose6phosphate dehydrogenase g6pd may experience different degrees of haemolytic anaemia. How is congenital non spherocytic haemolytic anaemia abbreviated. Familial nonspherocytic haemolytic anaemia europe pmc. Glucose6phosphate dehydrogenase deficiency wikipedia.
Get a printable copy pdf file of the complete article 552k, or click on a page image below to browse page by page. When you have anemia, your bone marrow doesnt make enough red blood cells. Congenital non spherocytic hemolytic anemia is a rare autosomal recessive condition causing enzyme deficiencies that lead to congenital hemolytic anemia and usually no spherocytosis and hemoglobin abnormalities are present. Hnsha stands for hereditary non spherocytic hemolytic anemia. Cnsha congenital nonspherocytic haemolytic anaemia. Hnsha is defined as hereditary non spherocytic hemolytic anemia very rarely. Hemolytic anemia caused by a medication or infection is usually temporary. Glucose6phosphate dehydrogenase g6pd is an enzyme in the pentose phosphate pathway see image, also known as the hmp shunt pathway. Looking for online definition of hereditary non spherocytic hemolytic anemia in the medical dictionary. Meaning of hereditary non spherocytic hemolytic anemia medical term.
It is the only enzyme in the direct glycolytic pathway that is encoded by an xlinked gene. Given coombs negative, non spherocytic hemolytic anemia, recent dvt, and pancytopenia, pnh is suspected and peripheral blood is sent for cd55 and cd59 on rbcs diagnosis. Nonspherocytic congenital hemolytic anemia blood american. Which medications should be avoided in patients with g6pd. Overview of hemolytic anemia msd manual professional edition. If the red blood cells cannot be replaced faster than they destroy themselves, anemia is the result. Hemolytic anemia caused by an inherited illness is a lifelong condition. It depends on the specific inherited disorder and its. The first page of the pdf of this article appears above. It goes away when the drug is discontinued or the infection is treated. In fact, the hereditary nonspherocytic haemolytic anaemias are not as uncommon. How is hereditary non spherocytic hemolytic anemia abbreviated.
Hereditary nonspherocytic haemolytic anaemia with post. Cnsha stands for congenital non spherocytic haemolytic anaemia. Glucose6phosphate dehydrogenase guadalajaraa case of. Spherocytic haemolytic anaemia, british journal of haematology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Hereditary spherocytosis nord national organization for. If the red blood cells cannot be replaced faster than they destroy themselves, anemia.
For more information on how to use laverne, please read the how to guide. For approximately 3050% of patients, tests are performed for all known rbc defects but a specific defect is never identified, suggesting that there are many uncharacterized genetic abnormalities. Glucose6phosphate dehydrogenase deficiency the lancet. Such g6pd variants have been described all over the world and are responsible for chronic non spherocytic haemolytic anaemia cnsha.
Updating the who g6pd classification of variants and the. In 1972, valentine et al described, under the name of nonspherocytic haemolytic anaemia, high red cell atp and ribose phosphate pyrophosphokinase rpk. Drugs causing haemolysis in g6pd deficiency subjects dr jones c. Get a printable copy pdf file of the complete article 978k, or click on a page. Characteristic symptoms of hs are the destruction of red blood cells in the spleen and their removal from the blood stream hemolytic anemia, a yellow tone to the skin jaundice, and an enlarged spleen splenomegaly. G6pd converts glucose6phosphate into 6phosphoglucono.
Chronic familial nonspherocytic hemolytic anemia american. The results of chromium51 erythrocyte life span studies prior to, during, and after periods. Chronic nonspherocytic haemolytic anaemia is uncommon but is usually characterized by chronic haemolysis, often with severe anaemia. Hereditary spherocytosis is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. Hereditary nonspherocytic hemolytic anemia definition of. Idiopathic haemolytic anemia of pregnancy with negative coombs test is a very rare. G6pd deficiency is an xlinked, hereditary genetic defect due to mutations in the g6pd gene, which. Glucose6phosphate dehydrogenase g6pd deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. Hereditary non spherocytic hemolytic anemia explanation free. Congenital nonspherocytic hemolytic anemia ncbi nih. Explore more on chronic non spherocytic hemolytic anemia below. Types of hemolytic anemia nonimmune intravascular hemolysis autoimmune hemolytic anemia warm autoimmune hemolytic anemia waiha cold hemagglutinin disease chd paroxismal cold hemoglobinuria pch congenital hemolytic anemia sickle cell anemia hereditary spherocytosis rh null, rh mod, mcleod phenotype. The mechanism could not be established during the initial period of observation.
Heredity nonspherocytic hemolytic anemia presenting as hemolytic disease of the. More than 80 genetic variants of glucose6phosphate dehydrogenase g6pd are associated with chronic non spherocytic haemolytic anaemia cnsha. Pdf hemolytic anemia is not uncommon in obstetric practice. Full text is available as a scanned copy of the original print version. A family with congenital non spherocytic hemolytic anemia associated with glucose6phosphate dehydrogenase g6pd deficiency was studied. Congenital nonspherocytic hemolytic anemia definition of. Hereditary nonspherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from spain. Pnh acquired clonal hematopoietic stem cell disorder. Manual of standardized procedures for spectrophotometric chemistry. Congenital non spherocytic haemolytic anaemia how is congenital non spherocytic haemolytic anaemia. Most are associated with varying degrees of hemolysis, but all are less severe than, and are to be differentiated from, the more serious disorder. Such g6pd variants have been described all over the world and are responsible for chronic nonspherocytic haemolytic anaemia cnsha. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the socalled malaria protection hypothesis.
Nonspherocytic congenital hemolytic anemia due to a new g6pd variant. Hereditary non spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from spain. Acquired autoimmune hemolytic anemia, or aiha, is a rare type of anemia. Cnsha is defined as congenital non spherocytic haemolytic anaemia very rarely.
What is hereditary non spherocytic hemolytic anemia. A nonsense variant in the hexokinase 1 gene hk1 causing. Classification of hemolytic anemias 2 extracorpuscular factors immune hemolytic anemias autoimmune hemolytic anemia transfusion of incompatible blood nonimmune hemolytic anemias chemicals bacterial infections, parasitic infections malaria, venons hemolysis due to physical trauma hemolytic uremic syndrome hus. These cases do not fit into any known specific category and are. Chronic non spherocytic hemolytic anemia bioinformatics tool laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on cocitations. Full text full text is available as a scanned copy of the original print version. Review of the peripheral blood smear is a critical step in the evaluation of any anemia. A new variant of g6pd associated with chronic non spherocytic haemolytic anaemia cnsha in an irish male is described. Congenital nonspherocytic hemolytic ane mia, atypical congenital hemolytic anemia, and other similar names refer to a hetero geneous, incompletely. Nonspherocytic haemolytic anaemia europe pmc article.
A family with congenital nonspherocytic hemolytic anemia associated with. Glucose6phosphate dehydrogenase guadalajaraa case of chronic non spherocytic haemolytic anaemia responding to splenectomy and the role of splenectomy in this disorder. It leads to red blood cells that are shaped like spheres, and premature breakdown of red blood cells. The impact on a persons quality of life and life span can vary greatly. In a small number of cases, g6pd deficiency can lead to mildtosevere chronic haemolysis, which is further exacerbated by oxidative stress. The gene encoding for g6pd is highly polymorphic, with over 300 variants and variable phenotypic. Hereditary spherocytosis hs is an inherited disease that affects the red blood cells. Pdf congenital nonspherocytic hemolytic anemia cnsha is a rare autosomal recessive condition that presents as a congenital hemolytic. Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia nsha. Chronic nonspherocytic haemolytic disorders associated with.
Hereditary non spherocytic haemolytic anaemia with postsplenectomy inclusion bodies and pigmenturia caused by an unstable haemoglobin santa anabeta88 f4 leucineproline. Fetal death has been reported in one case kanno et al, 2002. Hereditary nonspherocytic hemolytic anemia is a term used to describe a group of rare, genetically transmitted blood disorders characterized by the premature destruction of red blood cells erythrocytes or rbcs. The remaining patient suffered from moderate to severe chronic non. Get a printable copy pdf file of the complete article 246k, or click on a page image below to browse page by page. In order to help clarify the molecular basis of this association, we have carried out a detailed biochemical and genetic characterization of two g6pd deficient brothers affected by cnsha.
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