Hereditary spherocytosis is a genetic hemolytic anemia Biology essay
Hereditary spherocytosis, HS, is the most common cause of hemolytic anemia due to an abnormal red cell membrane and is classified as a type of congenital hemolytic anemia. Oskar Minkowsky first described it in the 1970s. 1Hereditary spherocytosis, HS, is a hereditary hemolytic anemia caused by the mutations in the genes encoding erythrocyte membrane proteins. Hereditary spherocytosis is an inherited abnormality of red blood cells caused by defects in structural membrane proteins. It is the most common form of, although relatively rare, hereditary spherocytosis. HS is the most common cause of hemolytic anemia due to a defect in the red cell membrane. It is a consequence of hereditary spherocytosis HS is an inherited disorder of red blood cells. The disease can be mild and unrecognized in some people. In other cases it may be: Abstract. Significant progress has been made in the diagnosis and clinical treatment of hereditary red cell membrane disorders resulting in hemolytic anemia. Structural defects in the membrane lead to hereditary spherocytosis HS and hereditary elliptocytosis HE, while altered membrane transport function is the cause. Suspecting a familial hemolytic disorder, the doctor orders an osmotic fragility test, which comes back as abnormal. Introduction. Overview. hereditary spherocytosis is a hereditary hereditary spherocytosis. Hereditary spherocytosis is a common hereditary condition characterized by anemia, jaundice and splenomegaly. It is reported worldwide and is the most common hereditary anemia in persons of Northern European descent. Clinical severity varies, with most patients having well-compensated hemolytic anemia. Hereditary hemolytic anemia HHA is a heterogeneous group of disorders due to genetically caused defects in red blood cell membrane structure, enzymes, heme and globin synthesis, erythroid proliferation and differentiation. Traditionally, the diagnostic process is complex and involves a plethora of tests, from routine to highly specialized. Hereditary spherocytosis HS is a familial hemolytic disorder associated with a variety of mutations that lead to defects in the RBC membrane proteins of the red blood cells. 1, 2 It is also one of the most common causes of hemolytic anemia due to membrane defects. HS is caused by variants in one of five genes, ANK1, SPTA1, SPTB, Background. Current diagnostic tests for hereditary spherocytosis HS focus on the detection of hemolysis or the indirect assessment of membrane protein defects, while direct methods to detect protein defects are complicated and difficult to implement. In the current study, we examined the patterns of genetic variation associated with Core tip: Hereditary spherocytosis HS is a common form of hemolytic anemia caused by membrane abnormalities in red blood cells. HS, HS1 is usually due to mutations in ankyrin ANK1. Newborns with HS show only anemia and mild jaundice. This article reports on a Chinese neonate who developed a severe, refractory disease. Most patients with hereditary spherocytosis HS have a family history of diseases, while patients without such a history are difficult to diagnose. We herein report a case of HS without family history with a novel heterozygous mutation of SPTA1, c.2161G gt A p.E721K, and a homozygous polymorphis. The term hereditary hemolytic anemia HHA encompasses a diverse group of;