Hereditary hemolytic anemia pdf

Hereditary hemolytic anemia hha is caused by defects in the red blood cell membrane proteins, deficiencies in red blood cell enzymes, or hemoglobin disorders. An 11yrold child with mild chronic hemolytic anemia was found to have decreased red cell hexokinase activity in spite of the reduced mean age of her red cell population. Abstract hereditary hemolytic anemias hha are a heterogeneous group of anemias associated with decreased red cell survival. Pdf red blood cell vesiculation in hereditary hemolytic. While there can be clinical benefit of splenectomy in many cases, splen. Although relatively rare, hereditary spherocytosis hs is the most common cause of hemolytic anemia due to a red cell membrane defect. Hereditary spherocytosis hs is the most common type of hereditary hemolytic anemia. Acquired hemolytic anemia an overview sciencedirect topics. Hereditary elliptocytosis ovalocytosis like hereditary.

Red blood cell vesiculation in hereditary hemolytic anemia. Congenital dyserythropoietic anemias cdas are caused by ineffective erythropoiesis and share some clinical characteristics with hha. Hemolytic anemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells rbcs, either in the blood vessels intravascular hemolysis or elsewhere in the human body. Hereditary hemolytic anemia an overview sciencedirect.

Common acquired causes of hemolytic anemia are autoimmunity, microangiopathy, and infection. Hemolysis involves premature destruction and hence a shortened rbc life span hereditary hemolytic anemias gilligan d. It is a result of heterogeneous alterations in one of five genes that. Anand lagoohereditary anemias rs512 sickle cell anemia clinical features due to severe hemolytic anaemia slow growth and development in children bilirubin stones congestive heart failure from. Classification of common hemolytic anemias extravascular hemolysis is mediated by the reticuloendothelial system res of the spleen and liver. Hereditary nonspherocytic hemolytic anemia and hexokinase. Anand lagoo hereditary anemias rs512 sickle cell anemia clinical features due to severe hemolytic anaemia slow growth and development in children bilirubin stones congestive heart failure from chronic anemias and cardiac overload compensation consequences of vasoocclusion of the. Two cases of sickle cell disease presumably due to the combination of the genes for thalassemia and sickle cell hemoglobin. How i approach hereditary hemolytic anemia and splenectomy. Hereditary spherocytosis common hemolytic anemia,inherited as an autosomal dominant condition. Associate professor, the university of texas medical branch, galveston, tx. Hereditary hemolytic anemia hha is caused by defects in the red blood cell membrane proteins, deficiencies in red blood cell enzymes, or hemoglobin. At the end of their normal life span about 120 days, red blood cells rbcs are removed from the circulation. Although the red cells in this anemia were more resistant to fragility tests in vitro than the red cells of hereditary spherocytosis, they were more rapidly destroyed in vivo.

Occurs due to defect in protein spectrin, ankyrinwhich anchor lipid bilayer to underlying cytoskeleton. The estimated prevalence of this membrane disorder is 1 in 5000 in the white population of northern. After completing this article, readers should be able to. Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including rbc membranehydration disorders, rbc. Microangiopathic hemolytic anemia occurs when the red. Hereditary spherocytosis sferositosis is the most common cause of hemolytic anemia among people of northern european descent. Hemolytic anemia is a subtype of anemia, a common blood disorder that occurs when the body has fewer red blood cells than normal. Autoimmune hemolytic anemia with warmreacting antibodies occurs at any age, but the majority of the patients are over age 40 with a peak incidence at around age 70. Differential diagnosis differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, southeast asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alphathalassemia see these terms. Clinical features anemia splenomegaly jaundice unconjugated bilirubin pigment gall stone bile pigment production. The journal of the korean medical association 4910. 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. Overview of hemolytic anemia hematology and oncology.