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Hemoglobinopathy

Hematology and Coagulation

True hemoglobinopathies Abnormalities in the gene to produce the globin chains in hemoglobin and the defect is structural
Thallasemia Both the alpha and beta chains are structurally normal. The defect is quantitative!
Disease Manifestation of hemolytic condition. Homozygous or heterozygous dominant gene
Trait Heterozygous and it has asymptomatic state
Sickle Cell Disease - Major Defect Abnormal Hgb structure and function. A gene is inherited from one of the parents. Forms Hgb S
Sickle Cell Disease - Cause of defect Substitution of valine for glutamic acid in the 6th position of the beta chain of the Hgb
Sickling occurs under Low O2, low pH, increased 2,3DPG, low cell water, presence of Hgb C
Clinical Manifestations - Sickle Cell Disease Painful, vascular occlusion, enlarged heart, stroke, arthritis, liver damage.
Lab Findings of Sickle Cell Disease Decreased Hgb, decreased Hct and RBC
RBC morphology seen in Sickle Cell Disease Moderate-significant poik, aniso and hypo. Microcytes, polychromatophilia, Basophilic stippling, Sickle cells, target cell, Howell Jolly Bodies
Sickle Cell Trait Heterozygous for Beta HbS. Presence of HbS&A
Sickle Cell Traits can be detected on Elecrophoresis with the following results 35-45% HbS. 55-65% HbA
Hemoglobin C Disease Substitution of lysine for glutamic acid in the sixth position of the beta chain of HbA
Clinical Manifestation of HbC Disease Decreased solubility.Forms crystals
Lab findings in HbC Normochromic, normocytic > then 50% target cells, Mild hypochromasis
Hemoglobin SC Disease Absence of HbA. Normal to increased HbF
Hb-SC Disease - Clinical Manifestation Mild-moderate normocytic, normochromic hemolytic anemia.
Lab Finding of Hb-SC 50% Target cells, Folded RBCs, Intracellular crystals, no sickle cells
Hemoglobin D Disease Homozygous and heterozygous are asymptomatic
Lab findings in HbD Disease Target cells
Electrophoresis of HbD Disease In alkaline pH-HbD migrates with HbS+HbG. In acid pH-HbD migrates with HbA
Hemoglobin E Disease Results from the substitution of lysine for glutamic acid in the 26th position on the beta globin chain
Clinical Manifestations of HbE Disease Worldwide second most common abnormal hemoglobin. In US are discovered through prenatal testing of high risk populations
Thalassemia The rate of synthesis of alpha or beta globin chains is decreased. Leads to an imbalance of globin chains available for hemoglobin dimer construction
Beta-Thalassemia Most common. Single-gene disorder - Defect on chromosome 11
Clinical Manifestation in Beta-Thalassemia Decreased production of beta chain. Ineffective erythropoiesis. Shortened red cell survival
Thalassemia minor ß+ chains are made in mildly reduced amounts
Thalassemia major No ß chains (ßo) or very little is made (ß+)
Lab Findings in Thalassemia Major Decreased Hgb, Hct, and RBCs,Anisocytosis & poikilocytosis. Polychromasia, microcytic, hypochromic.Target cells. Few nucleated RBCs. Increased reticulocytes. Decrease osmotic fragility. Increased Bilirubin, increased Iron
Alpha Thalassemia Results from deletions that remove one or both alpha globin genes from chromosome 16
Silent carrier state One inactive alpha gene
Alpha Thalassemia trait Two inactive genes. Imbalance of alpha and beta chains causes an excess of beta chains
Hemoglobin H disease Three inactive genes. Tetrad of beta chains form
Lab Findings in HbH Moderately-severe hemolytic anemia. Hgb 8-10 g/dl. Reticulocyte 5-10%. 4-30% Hgb H on electrophoresis
Hydrops fetalis with Hb Bart’s Four inactive genes. Makes Gamma chains. Produces Gamma tetrads. Incompatible with life- fetus dies in utero or shortly after birth
Hemoglobin Constant Spring Unusual form of silent carrier. Hemoglobin is formed from the combination of two structurally abnormal alpha chains
Sickle-beta Thalassemia Sickle gene from one parent. B-Thalassemia gene from the other
Clinical manifestations of Sickle-Beta Thalassemia Splenomegaly - 70% of the cases. Most severe manifestation in patients who cannot produce any HbA
Lab Finding of Sickle-Beta Thalassemia Hypochromasia, Microcytosis with polychromasia. Target cells. Basophilic stippling
Methemoglobinemia Elevated levels of methemoglobin in circulating blood
Hereditary Persistance of Fetal Hemoglobin Persistance of HbF in adults. 15-30% of the total hemoglobin
Created by: liudka11