Types

• Genetic conditions of RBC Membrane
  • Hereditary spherocytosis
    Hereditary spherocytosis
    Hereditary spherocytosis is a genetically-transmitted form of spherocytosis, an auto-hemolytic anemia characterized by the production of red blood cells that are sphere-shaped rather than bi-concave disk shaped , and therefore more prone to hemolysis.-Symptoms:As in non-hereditary spherocytosis,...
    
    
  • Hereditary elliptocytosis
    Hereditary elliptocytosis
    Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the sufferer's erythrocytes are elliptical rather than the typical biconcave disc shape. It is one of many red-cell membrane defects. In its severe forms, this disorder...
    
    
• Genetic conditions of RBC metabolism (enzyme
  Enzyme
  Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
  
   defects). 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.
  • Glucose-6-phosphate dehydrogenase deficiency
    Glucose-6-phosphate dehydrogenase deficiency
    Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive hereditary disease characterised by abnormally low levels of glucose-6-phosphate dehydrogenase , a metabolic enzyme involved in the pentose phosphate pathway, especially important in red blood cell metabolism. G6PD deficiency is...
    
     (G6PD or favism)
  • Pyruvate kinase deficiency
    Pyruvate kinase deficiency
    Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells and causes them to deform into echinocytes on peripheral blood smears.Both autosomal dominant and recessive...
    
    
• Hemoglobinopathies/genetic conditions of hemoglobin
  • Sickle cell anemia
  • Congenital dyserythropoietic anemia
    Congenital dyserythropoietic anemia
    Congenital dyserythropoietic anemia is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells in the body and a less than normal quantity of hemoglobin in...
    
    
  • Thalassemia
    Thalassemia
    Thalassemia is an inherited autosomal recessive blood disease that originated in the Mediterranean region. In thalassemia the genetic defect, which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin...