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The multiple bouts of thrombosis and infarction of the spleen in patients with sickle cell disease ultimately lead to splenic atrophy and increased susceptibility to pneumococcal (Streptococcus pneumoniae) sepsis due to the loss of splenic function. Howell-Jolly bodies are discrete basophilic intraerythrocytic inclusions of DNA commonly seen on peripheral smears of patients with asplenia due to splenectomy or splenic atrophy (Image 4-3). The highest prevalence of the hemoglobin S allele is found in tropical Africa, ranging from 20%-40%.

HbA 20% HbS 10% A2 F 0 0 1 2 3 4 5 HPLC: S heterozygote KEY WORDS AND CONCEPTS Hemoglobin Lepore Hemoglobin SC disease j Hereditary persistence of fetal hemoglobin (HPFH) j High-performance liquid chromatography (HPLC) 0 j Homozygous δβ HPFH j Howell-Jolly bodies j Hydrops fetalis j Ineffective erythropoiesis j Isoelectric focusing j Isopropanol solubility test j Methemoglobin j Nitrosohemoglobin j Nondeletional HPFH j Sickle cell anemia j Sickle cell crises j Sickle cell trait j Sickle-alpha thalassemia j Sickle-beta thalassemia j Sulfhemoglobin j Thalassemia intermedia j Thalassemia major j Thalassemia minor j Thalassemias j Unstable hemoglobin j j Acid elution test Acid gel electrophoresis j Alkaline gel electrophoresis j Alpha chain tetramers j Alpha thalassemia j Alpha thalassemia silent carrier j Alpha thalassemia trait j Anisopoikilocytosis j Beta thalassemia j Carboxyhemoglobin j Delta-beta thalassemia j Extravascular hemolysis j Heinz bodies j Hemoglobin A j Hemoglobin A1c j Hemoglobin A2 j Hemoglobin Bart’s j Hemoglobin C j Hemoglobin D j Hemoglobin D trait j Hemoglobin E j Hemoglobin E disease j Hemoglobin F (fetal hemoglobin) j Hemoglobin H disease j j 6 5 n n K E Y n n n RED BLOOD CELL METABOLISM AND ENZYME DEFECTS n n n n n n n n n P O I N T S  RBC energy is supplied entirely by the glycolytic pathway  Three auxiliary metabolic pathways branch from the glycolytic pathway: the hexose monophosphate (HMP) shunt, the 2,3-biphosphoglycerate (2,3-BPG) pathway, and the methemoglobin reductase pathway  The HMP shunt produces glutathione, a reducing agent that protects red blood cells from oxidative damage  Biphosphoglycerate produced by the 2,3-BPG pathway leads to decreased hemoglobin oxygen affinity and more rapid delivery of oxygen to hypoxic tissues  The methemoglobin reductase pathway leads to greater activity of methemoglobin reductase dependent on the F n ollowing enucleation, RBC metabolism is maintained by mitochondria, a short supply of residual mRNA, and pre-formed enzymes.

While a homogenous distribution of F cells is seen in δβ0 HPFH, a heterogeneous distribution of positive and negative cells is seen in δβ0 thalassemia. Hemoglobin fractions are detected by a variety of techniques, including agar gel electrophoresis, isoelectric focusing, and chromatography of peripheral blood hemolysates. All of these techniques are based upon separation of hemoglobin types by charge density. 6), all forms of hemoglobin are negatively charged and move toward the anode at varying rates depending upon amino acid composition.

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Hematology by David Hudnall

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