• However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. (haematologica.org)
  • This group is sometimes called congenital nonspherocytic (hemolytic) anemia , which is a term for a congenital hemolytic anemia without spherocytosis, and usually excluding hemoglobin abdormalities as well, but rather encompassing defects of glycolysis in the erythrocyte. (en-academic.com)
  • hemolytic anemia that is present from birth and in which the lifespan of red blood cells is diminished, such as occurs in hereditary spherocytosis. (en-academic.com)
  • Congenital hemolytic jaundice - Known also as hereditary spherocytosis (HS), this is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen). (en-academic.com)
  • any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. (icdlist.com)
  • Hereditary spherocytosis and hereditary elliptocytosis are examples of inherited hemolytic anemias. (ghcgenetics.com)
  • Hereditary spherocytosis is the most common congenital hemolytic anemia among Caucasians with an estimated prevalence ranging from 1:2,000 to 1:5,000. (ghcgenetics.com)
  • Some of the genetic disorders endemic to the Arab world are: hemoglobinopathy, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, and fragile X syndrome (FXS), which is an inherited genetic condition with critical consequences. (wikipedia.org)
  • A study about sickle cell anemia in Arabs article about Birth defects Glucose phosphate isomerase deficiency responsible for unexpected hemolytic episodes. (wikipedia.org)
  • hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. (icdlist.com)
  • Altogether, ATP11C deficiency is the likely cause of hemolytic anemia in our patient, thereby underlining the physiological role and relevance of this flippase in human RBCs. (bvsalud.org)
  • Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). (biomedcentral.com)
  • Glucose-6-phosphate isomerase (GPI) deficiency (MIM 613470), one of hereditary nonspherocytic hemolytic anemias (HNSHA), is a rare autosomal recessive hereditary disease caused by homozygous or compound heterozygous mutations of GPI gene on chromosome 19q13 [ 1 ]. (biomedcentral.com)
  • MCV, as well as MCH and MCHC, reflect average values and may not adequately reflect RBC changes where mixed RBC populations are present, such as dimorphic RBC populations in sideroblastic anemia or combined iron deficiency anemia (decreased MCV and MCH) and megaloblastic anemia (increased MCV). (medscape.com)
  • Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al. (nih.gov)
  • Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. (nih.gov)
  • Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). (nih.gov)
  • Specific rare autosomal recessive diseases are high in Arabic countries like Bardet Biedl syndrome, Meckel syndrome, congenital chloride diarrhea, severe childhood autosomal recessive muscular dystrophy (SMARMD) lysosomal storage diseases and PKU are high in the Gulf states. (wikipedia.org)
  • Hb Bart syndrome is a severe form of anemia secondary to alpha thalassemia. (ghcgenetics.com)
  • Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. (nih.gov)
  • Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. (haematologica.org)
  • Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). (ghcgenetics.com)
  • See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). (nih.gov)
  • a rare congenital hypoplastic anemia that usually presents early in infancy. (icdlist.com)
  • Dr Thurman' guidebook about Rare genetic diseases Another book Arabic genetic disorders layman guide Saudi Journal article about genetic diseases in Arabic countries The highest proportion of genetic disorders manifestations are: congenital malformations followed by endocrine metabolic disorders and then by neuron disorders (such as Neuromotor disease)and then by blood immune disorders and then neoplasms. (wikipedia.org)
  • a condition of inadequate circulating red blood cells (anemia) or insufficient hemoglobin due to premature destruction of red blood cells (erythrocytes). (icdlist.com)
  • anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. (icdlist.com)
  • anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. (icdlist.com)
  • anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (mcv) and increased mean corpuscular hemoglobin (mch). (icdlist.com)
  • He suffered from moderate hemolytic anemia (hemoglobin levels ranging from 62 to 91 g/L) associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. (biomedcentral.com)
  • Anemia is defined as a decrease in the amount of red blood cells or hemoglobin in the blood. (ghcgenetics.com)
  • hemolytic anemia due to various intrinsic defects of the erythrocyte. (icdlist.com)
  • As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. (haematologica.org)
  • Treatments for chronic hemolytic anemia include blood transfusions, splenectomy, and supportive therapy. (biomedcentral.com)
  • [ 2 ] Of note, type of anemia can also be categorized based on bone marrow responses to anemia using reticulocyte count into hypoproliferative anemia (decreased red blood cell production) and hemolytic anemia (increased red blood cell destruction). (medscape.com)
  • Conditions to consider in the differential diagnosis of anemia of prematurity (AOP) are those which diminish red cell production, increase red cell destruction, or cause blood loss. (medscape.com)
  • The causes of anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). (ghcgenetics.com)
  • a familial disorder characterized by anemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (erythroid precursor cells). (icdlist.com)
  • the disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (icdlist.com)
  • a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. (icdlist.com)
  • sideroblastic anemia can be microcytic anemia, macrocytic anemia, or normochromic and normocytic anemia (due to the presence of dimorphic population of microcytes and macrocytes). (medscape.com)
  • Acute physiological effects of packed red blood cell transfusion in preterm infants with different degrees of anaemia. (medscape.com)
  • Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. (nih.gov)
  • D64.9 is a billable ICD-10 code used to specify a medical diagnosis of anemia, unspecified. (icdlist.com)
  • acquired hemolytic anemia due to the presence of autoantibodies which agglutinate or lyse the patient's own red blood cells. (icdlist.com)
  • Congenital hemolytic anemia (or hereditary hemolytic anemia ) refers to hemolytic anemia which is primarily due to congenital disorders . (en-academic.com)
  • In addition, once the causes of anemia are considered, correlation with clinical findings, including history and physical examination, is important, as is, when necessary, performing more definitive tests to arrive with a definitive diagnosis. (medscape.com)
  • Yasmeen BH, Chowdhury MA, Hoque MM, Hossain MM, Jahan R, Akhtar S. Effect of short-term recombinant human erythropoietin therapy in the prevention of anemia of prematurity in very low birth weight neonates. (medscape.com)
  • These individuals may be blood sugar 160 in the morning referred to as having a type of congenital nonspherocytic hemolytic anemia. (esaunggul.ac.id)
  • Among these parameters, MCV is the most useful value used to classify the type of anemia based on red cell morphology. (medscape.com)
  • Hemolytic anemia was considered, and blood transfusion (once, at 56-day-old) and other treatments, including protein iron succinate oral solution, vitamin C, vitamin B12, and prednisone acetate, were administered at the local hospital. (biomedcentral.com)