p.40
Aetiology and Pathogenesis of Anemia
What causes angular cheilosis?
Impaired proliferation of epithelial cells.
p.56
Laboratory Investigations for Anemia
What is haemoglobinuria?
The presence of free hemoglobin in the urine.
p.71
Thalassemia: Types and Clinical Implications
What type of inheritance is associated with Hb H?
Hb H inheritance is a form of thalassemia.
p.65
Thalassemia: Types and Clinical Implications
What is α0/β0-thalassemia?
A type of thalassemia where no globin chain is synthesized at all.
p.71
Thalassemia: Types and Clinical Implications
What is Thalassemia intermedia?
A form of thalassemia where patients can survive to old age and may require blood transfusions.
p.65
Thalassemia: Types and Clinical Implications
What causes thalassemia?
A reduced synthesis of α or β globin chains.
p.40
Clinical Features of Different Types of Anemia
What is glossitis?
Inflammation of the tongue characterized by a beefy-red and painful appearance.
p.65
Thalassemia: Types and Clinical Implications
What is α+/β+-thalassemia?
A type of thalassemia where some globin chain is still produced.
p.58
Definition and Classification of Anemia
What type of hemolytic anemia is inherited?
Hereditary hemolytic anemia.
p.72
Thalassemia: Types and Clinical Implications
What is Hb Barts?
A tetramer formed by excess gamma chains (γ4) due to the absence of available alpha globin chains in thalassemia.
p.72
Thalassemia: Types and Clinical Implications
What is the consequence of failure in fetal Hb synthesis in thalassemia?
It leads to the formation of Hb Barts and can result in death in utero or at birth.
p.49
Megaloblastic Anemia: Causes and Management
How is B12 deficiency treated?
Intramuscular hydroxocobalamin, every 3 months.
p.72
Thalassemia: Types and Clinical Implications
What is hydropic fetalis?
A condition characterized by severe edema in the fetus, often leading to stillbirth.
p.49
Megaloblastic Anemia: Causes and Management
What can happen if subacute combined degeneration of the cord is treated with folate without B12?
The condition may worsen.
p.68
Thalassemia: Types and Clinical Implications
What is the clinical significance of being a carrier for Beta thalassemia?
Carriers typically do not show symptoms but can pass the gene to offspring.
p.62
G6PD Deficiency: Pathophysiology and Clinical Findings
What is a common characteristic of mild G6PD deficiency?
It is usually asymptomatic.
p.69
Clinical Features of Different Types of Anemia
What condition is characterized by hepatosplenomegaly in Thalassemia?
Excessive red cell destruction and extramedullary haemopoiesis.
p.56
Laboratory Investigations for Anemia
What is haemosiderinuria?
The presence of haemosiderin, an iron storage protein, in urine, derived from the breakdown of hemoglobin in renal tubular cells.
p.12
Aetiology and Pathogenesis of Anemia
What is mechanism of anemia?
<p><strong>1. Decreased production</strong></p><p>• Ineffective erythropoiesis</p><p>➢ Deficiency of B12/folate/iron</p><p>➢ Abnormal synthesis of haemoglobin (thalassaemia)</p><p>• Decreased effective erythropoiesis</p><p>➢ Aplastic anaemia/marrow failure</p><p>• Decreased production of erythropoietin</p><p>➢ Renal disease</p><p><strong>2. Increased blood loss </strong></p><p>➢ Gastrointestinal bleeding </p><p>➢ Motor-vehicleaccident (MVA) </p><p><strong>3. Increased destruction </strong></p><p>➢ Haemolysis (intra or extravascular) eg. malaria infection</p>
p.40
Aetiology and Pathogenesis of Anemia
What causes the beefy-red appearance of the tongue in glossitis?
Impaired DNA synthesis in the mucosal epithelium.
p.27
Megaloblastic Anemia: Causes and Management
What are the causes (aetiology) of megaloblastic anemia?
<p>➢Vitamin B12 deficiency </p><p>➢Folate deficiency</p>
p.68
Thalassemia: Types and Clinical Implications
What type of inheritance is associated with Beta thalassemia major?
Autosomal recessive inheritance.
p.68
Thalassemia: Types and Clinical Implications
What is a carrier of Beta thalassemia?
An individual who has one normal gene and one mutated gene for beta globin.
p.58
Definition and Classification of Anemia
What are the two main classifications of hemolytic anemia (HA)?
Hereditary hemolytic anemia and acquired hemolytic anemia.
p.40
Clinical Features of Different Types of Anemia
What is angular cheilosis?
A condition characterized by inflammation and cracking at the corners of the mouth.
p.46
Clinical Features of Different Types of Anemia
What are hypersegmented neutrophils?
Neutrophils with more than 5 lobes.
p.72
Thalassemia: Types and Clinical Implications
What does stillbirth mean?
Death of a fetus at or after 20 weeks of gestation while still inside the mother's womb.
p.54
Laboratory Investigations for Anemia
What does PBF show in anaemia with reticulocytosis?
Spherocytes with polychromatic cells (reticulocytes).
p.53
Clinical Features of Different Types of Anemia
What is splenomegaly?
Enlargement of the spleen, often seen in hemolytic anemia.
p.54
Laboratory Investigations for Anemia
What are the characteristics of polychromatic cells?
They are denser, large, and purplish.
p.53
Clinical Features of Different Types of Anemia
What abdominal symptom may occur due to chronic hemolysis?
Painful right abdomen due to pigment gallstones.
p.63
G6PD Deficiency: Pathophysiology and Clinical Findings
What are the lab findings associated with G6PD deficiency?
Red cells with contracted Hb in 'ghost' membrane, blister cells, bite cells, NRBC, hemoglobinuria, and hemosiderinuria.
p.53
Clinical Features of Different Types of Anemia
What is hematuria?
Presence of blood in the urine, associated with intravascular hemolysis.
p.41
Clinical Features of Different Types of Anemia
What is optic atrophy?
Damage to the optic nerve that can lead to vision loss or blindness.
p.63
G6PD Deficiency: Pathophysiology and Clinical Findings
What does a low G6PD assay indicate?
It indicates G6PD deficiency.
p.59
Definition and Classification of Anemia
What is hereditary elliptocytosis?
A type of hereditary hemolytic anemia characterized by elliptical red blood cells.
p.60
Aetiology and Pathogenesis of Anemia
What is the significance of drugs in acquired hemolytic anemia?
Certain drugs can induce hemolysis by triggering immune responses.
p.65
Thalassemia: Types and Clinical Implications
What type of inheritance is associated with thalassemia?
Autosomal recessive inheritance.
p.62
G6PD Deficiency: Pathophysiology and Clinical Findings
When do patients with G6PD deficiency become symptomatic?
In response to oxidant stress (drugs, fava beans) or infections.
p.62
G6PD Deficiency: Pathophysiology and Clinical Findings
What can occur in severe cases of G6PD deficiency?
Chronic haemolytic anaemia.
p.52
Aetiology and Pathogenesis of Anemia
What is methaemalbuminaemia?
A clinical condition caused by severe intravascular haemolysis or acute haemorrhagic pancreatitis.
p.70
Thalassemia: Types and Clinical Implications
When do symptoms of thalassemia typically appear?
With 3 or 4 gene deletions.
p.55
Laboratory Investigations for Anemia
What happens to serum bilirubin levels in cases of hemolysis?
Serum bilirubin levels increase.
p.70
Thalassemia: Types and Clinical Implications
What is Hb H associated with?
3 gene deletions and excess beta chain forming tetramers.
p.55
Laboratory Investigations for Anemia
What is the significance of increased urine and fecal urobilinogen?
It indicates increased hemolysis.
p.51
Hemolytic Anemia: Mechanisms and Clinical Features
What system removes aged red blood cells?
Reticuloendothelial system (marrow, liver, spleen).
p.67
Thalassemia: Types and Clinical Implications
What are the consequences of α chain precipitation in β-thalassemia?
Ineffective erythropoiesis and hemolysis.
p.53
Clinical Features of Different Types of Anemia
What happens to red blood cells in hemolytic anemia?
They are destroyed at an accelerated rate.
p.43
Clinical Features of Different Types of Anemia
What is subacute combined degeneration of the cord?
A condition associated with vitamin B12 neuropathy affecting the spinal cord.
p.60
Aetiology and Pathogenesis of Anemia
What role do infections play in acquired hemolytic anemia?
Infections can trigger hemolysis and contribute to anemia.
p.15
Definition and Classification of Anemia
Classification of anemia. Explain.
<p>1. Morphological </p><p>– Based on red cell indices and blood film </p><p>• Hypochromic microcytic anaemia (MCV decrease, MCH decrease) </p><p>• Normocytic normochromic anaemia (MCV normal, MCH normal) </p><p>• Normochromic macrocytic anaemia (MCV increase, MCH normal)</p><p>2. Pathophysiological </p><p>– Based on causes of anaemia </p><p>• Iron deficiency anaemia </p><p>• Megaloblastic anaemia </p><p>• Haemolytic anaemia</p>
p.56
Clinical Features of Different Types of Anemia
What is haemoglobinaemia?
The presence of free hemoglobin in the blood.
p.70
Thalassemia: Types and Clinical Implications
When are individuals with thalassemia asymptomatic?
With 1 or 2 gene deletions.
p.67
Thalassemia: Types and Clinical Implications
What is the clinical presentation of β-thalassemia trait?
Asymptomatic (clinically minor).
p.38
Clinical Features of Different Types of Anemia
What neurological symptoms are associated with B12 deficiency?
Neurological symptoms can occur, including issues with myelination due to lack of methionine and SAM.
p.44
Megaloblastic Anemia: Causes and Management
What causes the neuropathy in pernicious anemia?
Severe vitamin B12 deficiency.
p.38
Clinical Features of Different Types of Anemia
What is the relationship between methionine, SAM, and myelination?
No methionine and no SAM lead to impaired myelination, which is associated with B12 deficiency.
p.59
Definition and Classification of Anemia
What are the main categories of hereditary hemolytic anemia?
Membrane defects, metabolic defects, and hemoglobin defects.
p.59
Definition and Classification of Anemia
What is hereditary spherocytosis?
A type of hereditary hemolytic anemia characterized by spherical red blood cells.
p.63
Laboratory Investigations for Anemia
What is the significance of the ultraviolet spot test in G6PD deficiency screening?
A negative result indicates that the screening test is not positive for G6PD deficiency.
p.59
Definition and Classification of Anemia
What is thalassemia?
A hereditary hemolytic anemia caused by defective synthesis of hemoglobin (α or β).
p.45
Laboratory Investigations for Anemia
What is a characteristic finding in the Peripheral Blood Film for macrocytic anemia?
Macrocytosis with anisopoikilocytosis.
p.43
Aetiology and Pathogenesis of Anemia
What causes the accumulation of S-adenosyl homocysteine in cobalamin deficiency?
Excessive homocysteine entry due to lack of B12 to convert it to methionine.
p.63
G6PD Deficiency: Pathophysiology and Clinical Findings
What is hemosiderinuria?
The presence of hemosiderin in the urine, indicating iron overload or hemolysis.
p.60
Aetiology and Pathogenesis of Anemia
What is alloimmune hemolytic disease of the newborn?
A condition where maternal antibodies attack fetal red blood cells.
p.58
Definition and Classification of Anemia
What type of hemolytic anemia is developed due to external factors?
Acquired hemolytic anemia.
p.56
Clinical Features of Different Types of Anemia
What are schistocytes?
Fragmented red cells seen in peripheral blood film (PBF).
p.61
G6PD Deficiency: Pathophysiology and Clinical Findings
What happens when there is a deficiency of G6PD?
There is a decrease in NADPH production.
p.39
Clinical Features of Different Types of Anemia
What causes the lemon-yellow appearance in patients?
Ineffective erythropoiesis leading to excessive hemoglobin breakdown.
p.61
G6PD Deficiency: Pathophysiology and Clinical Findings
What is the consequence of reduced NADPH production due to G6PD deficiency?
Lack of reduced glutathione (GSH), which protects the membrane, hemoglobin, and other cell structures from oxidant damage.
p.54
Laboratory Investigations for Anemia
What are spherocytes?
Abnormally shaped red blood cells that have lost their normal biconcave disc shape and become spherical.
p.66
Thalassemia: Types and Clinical Implications
What are the clinical classifications of Thalassemia based on severity?
1. Major = severe anemia and transfusion dependent. 2. Intermedia = anemia and splenomegaly. 3. Minor = symptomless carrier.
p.67
Thalassemia: Types and Clinical Implications
What characterizes β-thalassemia major?
Symptomatic with either no β chain (β0) or small amounts (β+).
p.45
Laboratory Investigations for Anemia
What are the typical hemoglobin (Hb) and mean corpuscular volume (MCV) findings in severe anemia?
Hb decreased, MCV increased.
p.67
Thalassemia: Types and Clinical Implications
What happens to α chains in β-thalassemia major?
Excess α chains precipitate in erythroblasts and mature red cells.
p.41
Clinical Features of Different Types of Anemia
What does spastic ataxia indicate?
Demyelination of the lateral and posterior columns.
p.55
Laboratory Investigations for Anemia
What happens to serum haptoglobin levels during intravascular hemolysis?
Serum haptoglobin levels decrease.
p.43
Clinical Features of Different Types of Anemia
What are the neurological effects of cobalamin deficiency?
It can cause bilateral peripheral neuropathy and degeneration of the posterior and pyramidal tracts of the spinal cord.
p.41
Clinical Features of Different Types of Anemia
What characterizes frank psychosis?
Severe mental disorder with delusions and hallucinations.
p.43
Aetiology and Pathogenesis of Anemia
What long-term effects can cobalamin deficiency have in infancy?
Poor brain development and impaired intellectual development.
p.43
Clinical Features of Different Types of Anemia
What is peripheral neuropathy?
Any condition that affects the nerves outside of the brain and spinal cord.
p.59
Definition and Classification of Anemia
What is glutathione synthase deficiency?
A metabolic defect that can contribute to hereditary hemolytic anemia.
p.60
Aetiology and Pathogenesis of Anemia
What is cold autoimmune hemolytic anemia?
A type of autoimmune hemolytic anemia where antibodies react at lower temperatures.
p.61
G6PD Deficiency: Pathophysiology and Clinical Findings
What is the role of G6PD in the body?
G6PD catalyzes the first step of the pentose phosphate pathway to produce NADPH.
p.47
Clinical Features of Different Types of Anemia
What are giant metamyelocytes?
Abnormally large, immature white blood cells.
p.52
Aetiology and Pathogenesis of Anemia
What causes the formation of methaem in methaemalbuminaemia?
Proteolytic breakdown of haemoglobin.
p.36
Definition and Classification of Anemia
What is Coeliac disease?
<ul class="tight" data-tight="true"><li><p>Also known as <strong>gluten-sensitive enteropathy</strong> or<strong> coeliac sprue</strong>, is disease of small intestine</p></li><li><p>Caused by consumption of <strong>gluten</strong> (substance found in wheat, barley and rye) > gluten activates the immune system and causing damage to delicate lining of the small intestine (that is responsible for absorbing nutrients and vitamins)</p></li><li><p>Histological section of jejunal biopsy shows <strong>villous atrophy</strong> with <u>absence/flattening of vili</u> and <u>hypertrophy of the mucosal crypts</u></p></li></ul><p></p>
p.66
Thalassemia: Types and Clinical Implications
What characterizes Major Thalassemia?
Severe anemia and transfusion dependence.
p.42
Clinical Features of Different Types of Anemia
Which epithelial cell surfaces are affected by macrocytosis due to deficiency?
Mouth, stomach, small intestine, respiratory, urinary, and female genital tracts.
p.59
Definition and Classification of Anemia
What is pyruvate kinase deficiency?
A metabolic defect that leads to hereditary hemolytic anemia.
p.41
Clinical Features of Different Types of Anemia
What are the potential brain involvements in neurological symptoms?
Optic atrophy, somnolence, dementia, and frank psychosis.
p.59
Definition and Classification of Anemia
What is pyrimidine 5-nucleotidase deficiency?
A metabolic defect that can lead to hereditary hemolytic anemia.
p.54
Laboratory Investigations for Anemia
What is reticulocytosis?
An increase in the number of reticulocytes in the blood.
p.47
Clinical Features of Different Types of Anemia
What are hyperpolypoid megakaryocytes?
Abnormally large platelet-producing cells.
p.54
Aetiology and Pathogenesis of Anemia
What causes the change in shape of spherocytes?
Defects in the red blood cell membrane.
p.42
Clinical Features of Different Types of Anemia
What is macrocytosis?
Enlargement of cells, particularly in epithelial surfaces.
p.41
Clinical Features of Different Types of Anemia
What are common neurological symptoms associated with certain conditions?
Numbness and spastic ataxia.
p.63
G6PD Deficiency: Pathophysiology and Clinical Findings
What does 'ghost' membrane refer to in G6PD deficiency?
It refers to red blood cell membranes that appear thin and almost translucent.
p.55
Aetiology and Pathogenesis of Anemia
What does erythroid hyperplasia in the bone marrow indicate?
It is a compensation mechanism for increased red blood cell destruction.
p.51
Hemolytic Anemia: Mechanisms and Clinical Features
When is hemolytic anemia observed?
When red cell survival is less than 30 days.
p.55
Laboratory Investigations for Anemia
What happens to haptoglobin when there is increased intravascular hemolysis?
More free hemoglobin saturates haptoglobin, leading to decreased serum haptoglobin levels.
p.59
Definition and Classification of Anemia
What are abnormal variants of hemoglobin?
Examples include Hb S, Hb C, and unstable hemoglobin variants.
p.55
Aetiology and Pathogenesis of Anemia
What does erythroid hyperplasia reflect in the bone marrow?
An increase in the number of red blood cell precursors.
p.43
Clinical Features of Different Types of Anemia
What does bilateral peripheral neuropathy indicate?
A condition that affects both sides of the body, such as both hands or both feet.
p.60
Aetiology and Pathogenesis of Anemia
What is warm autoimmune hemolytic anemia?
A type of autoimmune hemolytic anemia where antibodies react at body temperature.
p.33
Aetiology and Pathogenesis of Anemia
What is pernicious anemia (PA)?
<p>Pernicious anaemia is due to severe lack of intrinsic factor, lack of IF can be caused by autoimmune or congenital.</p><p>1) Autoimmune</p><ul class="tight" data-tight="true"><li><p>Occur in 50% of cases</p></li><li><p><strong>IF antibody inhibit IF function in gastric juice</strong></p></li><li><p>May a/w myxoedema, Hashimoto’s ds, Addison’s ds, vitiligo, hypoparathyroidism & hypogammaglobulinaemia</p></li><li><p>Occur in families, F > M, 60 years old, blood group A</p></li><li><p>Increase incidence of stomach cancer.</p></li><li><p><strong>It will cause gastric atrophy (thin stomach wall, plasma cell & lymphoid infiltrate of lamina propria, loss of gastric glands & parietal cells)</strong></p></li></ul><p>2) Congenital PA</p><ul class="tight" data-tight="true"><li><p>Congenital lack of IF </p></li><li><p>presentation develop after age of 2</p></li></ul><p></p>
p.38
Clinical Features of Different Types of Anemia
What is glossitis?
A symptom associated with B12 or folate deficiency characterized by inflammation of the tongue.
p.42
Aetiology and Pathogenesis of Anemia
Which tissues are primarily affected by cobalamin and folate deficiency?
Rapidly growing (DNA-synthesizing) tissues.
p.51
Hemolytic Anemia: Mechanisms and Clinical Features
How much can the normal adult marrow increase red cell production?
6 - 8 times more than the normal rate.
p.59
Definition and Classification of Anemia
What defect is associated with G6PD deficiency?
A metabolic defect leading to hemolytic anemia.
p.59
Definition and Classification of Anemia
What is South-East Asian ovalocytosis?
A hereditary condition characterized by oval-shaped red blood cells.
p.60
Aetiology and Pathogenesis of Anemia
What is a hemolytic transfusion reaction?
A reaction that occurs when the immune system attacks transfused red blood cells.
p.60
Aetiology and Pathogenesis of Anemia
How can chemical and physical agents cause hemolytic anemia?
They can damage red blood cells directly or alter their environment.
p.62
G6PD Deficiency: Pathophysiology and Clinical Findings
What are some clinical findings associated with G6PD deficiency?
Anaemia, mild jaundice, haematuria.
p.38
Clinical Features of Different Types of Anemia
What are common symptoms of anemia?
Weakness, tiredness, shortness of breath, angina, and heart failure.
p.44
Megaloblastic Anemia: Causes and Management
What condition is associated with pernicious anemia in the spinal cord?
Subacute combined degeneration of the spinal cord.
p.38
Clinical Features of Different Types of Anemia
What is angular cheilosis?
A symptom of B12 or folate deficiency, also known as angular stomatitis, characterized by cracks at the corners of the mouth.
p.66
Thalassemia: Types and Clinical Implications
What is a characteristic of Minor Thalassemia?
It is a symptomless carrier, showing only changes in red cell indices (hypochromic microcytic red cells).
p.41
Clinical Features of Different Types of Anemia
What is somnolence?
Excessive sleepiness or drowsiness.
p.43
Clinical Features of Different Types of Anemia
What rare conditions can result from long-term cobalamin deficiency?
Optic atrophy and mental abnormalities.
p.53
Clinical Features of Different Types of Anemia
How does the body compensate for the loss of red blood cells in hemolytic anemia?
Bone marrow activity increases.
p.63
G6PD Deficiency: Pathophysiology and Clinical Findings
What are bite cells in the context of G6PD deficiency?
Red blood cells that have had portions removed, resembling bites, due to oxidative damage.
p.60
Aetiology and Pathogenesis of Anemia
What is acquired hemolytic anemia?
A type of anemia caused by the destruction of red blood cells due to various factors.
p.44
Megaloblastic Anemia: Causes and Management
What is observed in the cross section of the spinal cord of a patient with severe vitamin B12 neuropathy?
Demyelination of the lateral and posterior columns.
p.53
Clinical Features of Different Types of Anemia
What physical change can occur in the skull due to chronic hemolysis?
Bossing of frontal and parietal bones, leading to a mongoloid appearance.
p.63
G6PD Deficiency: Pathophysiology and Clinical Findings
What is hemoglobinuria?
The presence of hemoglobin in the urine, often associated with hemolysis.
p.59
Definition and Classification of Anemia
What is hereditary stomatocytosis?
A type of hereditary hemolytic anemia characterized by mouth-shaped red blood cells.
p.60
Aetiology and Pathogenesis of Anemia
What is fragmentation syndrome?
A condition where red blood cells are damaged as they pass through small blood vessels.
p.70
Thalassemia: Types and Clinical Implications
What are H inclusions?
Precipitated excess beta chains in red cells due to Hb H.
p.66
Thalassemia: Types and Clinical Implications
What are the symptomatic forms of Hemoglobin associated with Major Thalassemia?
β thalassemia major, Hb Barts, and Hb H disease.
p.51
Hemolytic Anemia: Mechanisms and Clinical Features
What conditions are necessary for increased red cell production?
Adequate supply of iron, folate, and B12.
p.55
Laboratory Investigations for Anemia
What is haptoglobin and its role in hemolysis?
Haptoglobin is a protein that binds free hemoglobin released from damaged red blood cells.
p.51
Hemolytic Anemia: Mechanisms and Clinical Features
What are the two mechanisms of hemolysis in hemolytic anemia?
Intravascular (in circulation) and extravascular (removal in the RES).
p.5
Definition and Classification of Anemia
What is the definition of anaemia?
<p>Anaemia is reduction of haemoglobin (Hb) concentration in blood below normal for age and sex.</p>
