Hereditary hemolytic anemia pdf

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. Hereditary spherocytosis hs is the most common type of hereditary hemolytic anemia. Congenital dyserythropoietic anemias cdas are caused by ineffective erythropoiesis and share some clinical characteristics with hha. Hemolytic anemia is a subtype of anemia, a common blood disorder that occurs when the body has fewer red blood cells than normal. Common acquired causes of hemolytic anemia are autoimmunity, microangiopathy, and infection. After completing this article, readers should be able to. Hereditary spherocytosis sferositosis is the most common cause of hemolytic anemia among people of northern european descent. Hereditary nonspherocytic hemolytic anemia and hexokinase. Microangiopathic hemolytic anemia occurs when the red. Types of hemolytic anemia danafarberboston childrens. Red blood cell vesiculation in hereditary hemolytic anemia.

Hereditary spherocytosis common hemolytic anemia,inherited as an autosomal dominant condition. Although relatively rare, hereditary spherocytosis hs is the most common cause of hemolytic anemia due to a red cell membrane defect. Abstract hereditary hemolytic anemias hha are a heterogeneous group of anemias associated with decreased red cell survival. Associate professor, the university of texas medical branch, galveston, tx. A third abnormal hemoglobin associated with hereditary hemolytic anemia. Classification of common hemolytic anemias extravascular hemolysis is mediated by the reticuloendothelial system res of the spleen and liver. At the end of their normal life span about 120 days, red blood cells rbcs are removed from the circulation. Overview of hemolytic anemia hematology and oncology. Pdf red blood cell vesiculation in hereditary hemolytic. 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. The estimated prevalence of this membrane disorder is 1 in 5000 in the white population of northern. For approximately 3050% of patients, tests are performed for. 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. Autoimmune hemolytic anemia aiha is the most common type of acquired hemolytic anemias and is caused by the destruction of rbcs by autoantibodies directed against erythrocytes 254256.

It is a result of heterogeneous alterations in one of five genes that. The journal of the korean medical association 4910. Occurs due to defect in protein spectrin, ankyrinwhich anchor lipid bilayer to underlying cytoskeleton. 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.

Hemolysis involves premature destruction and hence a shortened rbc life span hereditary hemolytic anemias gilligan d. Hereditary spherocytosis hs is the most common cause of hemolytic anemia of nonimmune nature and is characterized by the presence of numerous spherocytes in the peripheral blood figure 61. Hereditary hemolytic anemia article pdf available in taehan uihak hyophoe chi. 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. How i approach hereditary hemolytic anemia and splenectomy. Hereditary hemolytic anemia an overview sciencedirect. Hemolytic anemia panel by ngs cincinnati childrens. Acquired hemolytic anemia an overview sciencedirect topics. While there can be clinical benefit of splenectomy in many cases, splen. Clinical features anemia splenomegaly jaundice unconjugated bilirubin pigment gall stone bile pigment production. 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. Hereditary hemolytic anemia hha is caused by defects in the red blood cell membrane proteins, deficiencies in red blood cell enzymes, or hemoglobin disorders. 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. Two cases of sickle cell disease presumably due to the combination of the genes for thalassemia and sickle cell hemoglobin.