Anemia and the liver: Hepatobiliary manifestations of anemia
Section snippets
Sickle cell anemia
Sickle cell anemia is an autosomal recessive condition that is present in 0.15% of black children in the United States and is caused by a mutation in the gene coding for the β-chain of hemoglobin. The mutation results in substitution of the normal gutamic acid by valine at amino acid 6 in the β-globin gene (often referred to as Glu6Val or E6V). Hemoglobin SS (HbSS) is unstable. It undergoes noncovalent polymerization in capillary or venous deoxygenated blood. Polymerized HbSS forms long strands
Paroxysmol nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria is associated with nearly continuous hemolysis, anemia, and intermittent hemoglobinuria, which usually increases during the night. Neutropenia and thrombocytopenia are also common. PNH usually is identified between ages 30 and 50 years [33], [34]. In some patients, the diagnosis is established before age 20 [33], [35] or in advanced age [33], [34]. Cell-membrane defects are present on erythrocytes, polymorphonuclear leukocytes, platelets, monocytes, and
G6PD deficiency
Glucose-6-phosphate dehydrogenase is an enzyme that catalyzes the first reaction in the pentose-phosphate pathway. It is the only source of reduced NADPH inside erythrocytes. NADPH in red blood cells reduces oxidized glutathione. The reduced form of glutathione is an important antioxidant, thiol doner, and cytoprotectant. Erythrocytes that have G6PD deficiency accumulate oxidized glutathione, which in turn leads to denaturation of hemoglobin and hemolysis after exposure to oxidative stress;
Hereditary spherocytosis
The most common heritable anemia in people of Northern European ancestry is hereditary spherocytosis, which affects about 1 of 5000 individuals in the United States and in the United Kingdom [56], [57]. Hereditary spherocytosis also occurs in nearly all racial groups. There are at least five genetic loci for gene mutations that can result in hereditary spherocytosis: α-spectrin on the long arm of chromosome 1 (1q21); ankyrin-1 on the short arm of chromosome 8 (8p11.2); β-spectrin on the long
HELLP syndrome
The HELLP syndrome is characterized by hemolysis, elevated liver enzymes, and low platelets. It occurs in the setting of late pregnancy and is associated with preeclampsia and eclampsia. Women whose blood pressure reaches or exceeds 140/90 mm Hg during pregnancy and decreases to normal within 6 weeks of delivery have gestational hypertension [83]. About 6% to 18% of pregnancies are associated with gestational hypertension [84], [85], [86], [87]. Asymptomatic individuals with gestational
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Cited by (33)
Systemic disease
2012, MacSween's Pathology of the LiverEmergency Management of Red Blood Cell Disorders
2012, Emergency Medicine: Clinical Essentials, SECOND EDITIONSystemic Disease
2011, MacSween's Pathology of the Liver: Expert Consult: Online and PrintThe blood in systemic disease
2009, MedicineCitation Excerpt :Excessive alcohol causes macrocytosis in the absence of anaemia or overt liver damage. Sideroblastic anaemia and haemolytic anaemia may occur,7 including severe haemolysis in Zieve’s syndrome and Wilson’s disease. There is increased risk of bleeding from reduced synthesis of clotting factors and mild DIC can also occur.8
Glucose-6-phosphate dehydrogenase deficiency
2008, The LancetCitation Excerpt :The precise mechanism by which increased sensitivity to oxidative damage leads to haemolysis is not fully known; furthermore, the exact sequence of events once an exogenous trigger factor is present is also unknown. Whatever the cause of the acute haemolysis in G6PD deficiency, it is characterised clinically by fatigue, back pain, anaemia, and jaundice.90 Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder.