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Sickle cell disease (HbS) is a severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red blood cells (RBC’s) into a crescent shape at low oxygen levels. Sickle cell disease (HbS) is commonest among those of African descent. In this disease, a single base mutation in the β-globin gene leads to the substitution of valine for […]
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Thalassemias are inherited disorders in which there is an abnormality of one or more of the globin genes leading to reduced globin protein production. There is, therefore, an imbalance of ß:α globin chain synthesis leading to globin chain precipitation, ineffective erythropoiesis and hemolysis. The hemoglobin molecule is a tetramer consisting of 4 polypeptide chains, known as globins, which are usually: 2 […]
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Pyruvate kinase (PK) deficiency is one of the most common enzymatic defects of the RBCs, it manifests clinically as a hemolytic anemia that can range from mild to severe. Pyruvate kinase (PK) deficiency is inherited in an autosomal recessive pattern. The birth history of patients with pyruvate kinase deficiency includes severe anemia, severe jaundice, kernicterus, and a history of exchange transfusion. […]
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Introduction: Glucose 6 phosphate dehydrogenase (G6PD) deficiency affects approximately 400 million individuals worldwide. It is the most common human enzyme defect. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. It is common in Africa, around the Mediterranean, and in the Orient. G6PD deficiency is an X-linked recessive disorder. The hereditary genetic […]
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Thromboses may occur in PNH at unusual sites Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired, life-threatening disease of the blood. The disease is characterized by destruction of red blood cells by the complement system, a part of the body’s innate immune system (hemolytic anemia), blood clots (thrombosis), and impaired bone marrow function (not making enough of the three blood components). PNH is […]
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Acanthocytes (spur cells) are spiculated red cells with a few projections of varying size and surface distribution. The formation of acanthocytes depends on alteration of the lipid composition and fluidity of the red cell membrane. Acanthocytosis may be inherited (autosomal recessive) in association with retinitis pigmentosa, diffuse neurological deficits, and abetalipoproteinemia. In abetalipoproteinaemia, an autosomal recessive condition, vitamin E deficiency […]
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Stomatocytes (RBCs with slit-like central pallor) Stomatocytosis is a rare condition of RBCs in which a mouthlike or slitlike pattern replaces the normal central zone of pallor. These cells are associated with congenital and acquired hemolytic anemia. The symptoms result from the anemia. The rare congenital stomatocytosis, which shows autosomal dominant inheritance, causes a severe hemolytic anemia presenting very early […]
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Hereditary Elliptocytosis (HE), also known as ovalocytosis, is a disorder of the red cell membrane inherited usually in an autosomal dominant pattern. In this condition, the majority of cells have an elliptical shape. The osmotic fragility is normal. HE is due to defects in either the structure or quantity of the cytoskeletal proteins responsible for maintaining the biconcave morphology of RBCs. Mutations […]
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Hereditary Spherocytosis (HS) is a disorder of the red cell membrane inherited usually in an autosomal dominant pattern. In this condition, the red cells are more rigid and fragile than normal. They are spherocytic in shape appearing small and deeply stained on blood smears and have osmotic fragility. A normal red blood cell can live for up to 120 days. […]
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Introduction: Red blood cells (RBCs) are made in the bone marrow—a sponge-like tissue inside the bones. They live for about 120 days in the bloodstream and then die. Hemolysis involves premature destruction and hence a shortened RBCs life span (< 120 days). When RBCs die, the body’s bone marrow makes more blood cells to replace them. However, in hemolytic anemias, the bone […]
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