Anemias And Hemoglobinopathies

The term "microcytic" refers to the size of red blood cells (RBCs). In this case, the correct answer suggests that the RBCs are smaller than normal. Microcytic RBCs can be an indication of various conditions such as iron deficiency anemia, thalassemia, or lead poisoning. These conditions can affect the production or function of hemoglobin, leading to smaller RBCs.

Macrocytic refers to abnormally large red blood cells (RBCs). This condition can be caused by various factors such as vitamin B12 or folate deficiency, alcoholism, liver disease, or certain medications. In macrocytic anemia, the RBCs are larger than normal and may not function properly, leading to symptoms such as fatigue, weakness, and shortness of breath. Therefore, the term "macrocytic" accurately describes the condition of having large-sized RBCs.

The main cause of pernicious anemia is an autoimmune disease associated with decreased intrinsic factor due to autoantibodies. Intrinsic factor is responsible for carrying Vitamin B12 to the ileum for absorption. This means that if there is a decrease in intrinsic factor due to autoantibodies, it can lead to a deficiency in Vitamin B12 absorption, resulting in pernicious anemia. Therefore, the statement is true.

Both autoantibodies, anti-parietal cell antibody and anti-intrinsic factor antibody, are known to cause deficient intrinsic factor. Intrinsic factor is necessary for the absorption of vitamin B12 in the body. Therefore, when these autoantibodies are present, they can lead to malabsorption of vitamin B12. This explanation supports the given answer, which is true.

Hypochromic refers to a condition where there is a decrease in the amount of hemoglobin in red blood cells (RBC), leading to a paler color. This can be caused by various factors such as iron deficiency or certain types of anemia. In this case, the answer "hypochromic" suggests that there is less color in the RBC, indicating a decrease in hemoglobin levels.

In iron deficiency anemia, ferritin levels are low because ferritin is a protein that stores iron. When there is a deficiency of iron, ferritin levels decrease as the body uses up its iron stores. On the other hand, TIBC (Total Iron Binding Capacity) is high in iron deficiency anemia. TIBC measures the amount of iron that can be bound by proteins in the blood. When iron levels are low, the body produces more proteins that can bind to iron, resulting in a high TIBC. Therefore, the given statement is true.

Fish tapeworm can lead to competition for B12 because it absorbs vitamin B12 from the host's intestines, resulting in a deficiency of this essential vitamin. This deficiency can eventually cause megaloblastic anemia, a condition characterized by the production of abnormally large red blood cells. Therefore, the statement is true.

Hyperchromic refers to an increase in the concentration of hemoglobin in red blood cells (RBC), resulting in a darker color. This can occur due to various reasons such as dehydration, certain types of anemia, or an abnormal increase in the production of hemoglobin. In contrast, hypochromic refers to a decrease in the concentration of hemoglobin, resulting in a paler color. Therefore, the given answer suggests that there is an increase in the concentration of hemoglobin in the RBC, causing a darker color.

Megaloblastic anemia is a type of anemia characterized by the presence of abnormally large red blood cells. It is caused by a deficiency of vitamin B12 and/or folate, which are essential for DNA synthesis. Without sufficient levels of these vitamins, the production of new red blood cells is impaired, leading to the development of megaloblastic anemia. This condition can result in symptoms such as fatigue, weakness, and shortness of breath.

Hypochromic microcytic anemia is the correct answer because it refers to a type of anemia characterized by small red blood cells that have a decreased amount of hemoglobin. This can be caused by iron deficiency, which leads to insufficient production of hemoglobin. The term "hypochromic" describes the pale appearance of the red blood cells due to the low levels of hemoglobin, while "microcytic" indicates the small size of the cells. This type of anemia is commonly associated with iron deficiency, making it the most appropriate answer.

Homozygotes refers to individuals who have inherited two copies of the same gene variant for a particular trait. In the context of the given question, it suggests that individuals who are homozygous for a certain gene related to sickle cell disease are more likely to present with painful crisis and splenic sequestration by the age of 8. This means that having two copies of the gene variant increases the severity of the symptoms and the likelihood of experiencing these specific complications at an early age.

Homozygotes refers to individuals who have two copies of the abnormal Hgb S gene. In this context, the explanation suggests that when the abnormal Hgb S polymerizes, it causes the red blood cells (RBCs) to have a sticky membrane with decreased deformability, resulting in a sickle shape. This abnormality leads to hemolysis (breakdown of RBCs) in both the spleen and vessels. Therefore, individuals who are homozygotes for the abnormal Hgb S gene are more likely to experience these effects compared to heterozygotes, who have only one copy of the abnormal gene.

Homozygotes refers to individuals who have two copies of the same gene variant, in this case, Hgb S. Since all Hgb is structurally abnormal due to an incorrect amino acid in the beta globin chain, individuals who are homozygotes for this gene variant will have two copies of the abnormal Hgb S.

In anemia of chronic disease, the body's iron stores can be high or normal, which means that the ferritin levels will be high. Additionally, the total iron-binding capacity (TIBC) will be low in this condition. This is because the body retains iron to fight off the chronic inflammation or infection that is causing the anemia. Therefore, the given statement is true.

Homozygotes refers to individuals who have inherited two copies of the same allele for a particular gene, in this case, the gene related to sickle cell disease. Homozygotes for sickle cell disease have inherited two copies of the abnormal hemoglobin gene, resulting in the production of abnormal hemoglobin and the development of the disease. This is in contrast to heterozygotes, who have inherited one normal allele and one abnormal allele, and may not exhibit symptoms of the disease but can pass it on to their offspring.

The presence of microcytic spherocytes on a blood smear, along with an increased reticulocyte count of up to 20%, suggests hereditary spherocytosis. Hereditary spherocytosis is a genetic disorder characterized by the production of spherical-shaped red blood cells that are more prone to destruction by the spleen. This leads to a decrease in red blood cell lifespan and the development of anemia. Other conditions like sickle cell disease and G6PD deficiency may also cause hemolytic anemia, but they typically present with different red blood cell morphologies and clinical features.

The correct answer is "anti-intrinsic factor antibody" because it is directed against intrinsic factor. Intrinsic factor is a protein produced by the parietal cells in the stomach that is necessary for the absorption of vitamin B12. Antibodies against intrinsic factor can interfere with its function, leading to a deficiency of vitamin B12. Therefore, the presence of anti-intrinsic factor antibodies can be indicative of pernicious anemia, an autoimmune condition where the body attacks its own intrinsic factor.

The statement is true because bone marrow iron is the most sensitive test for diagnosing iron deficiency anemia. Iron deficiency anemia occurs when there is a lack of iron in the body, leading to decreased production of red blood cells. Bone marrow iron evaluation provides a direct assessment of iron stores in the body, making it a highly sensitive test for detecting iron deficiency. Serum ferritin, on the other hand, is a blood test that measures the level of ferritin, a protein that stores iron. While not as sensitive as bone marrow iron evaluation, serum ferritin is still considered a reliable test for diagnosing iron deficiency anemia.

Homozygotes refers to individuals who inherit the same version of a gene from both parents. This means that both copies of the gene are identical. In this case, the individual would have two identical alleles for a particular gene. This can result in either a dominant or recessive trait being expressed, depending on the nature of the gene. Heterozygotes, on the other hand, inherit different versions of a gene from each parent and have two different alleles for a particular gene.

Anti-parietal cell antibodies are directed against and destroy gastric parietal cells. These cells are responsible for producing intrinsic factor, which is necessary for the absorption of vitamin B12. Therefore, when the parietal cells are destroyed by the antibodies, they cannot produce intrinsic factor, leading to a deficiency in vitamin B12 absorption.

Vitamin B12 is essential for the proper functioning of the nervous system, and its deficiency can lead to neurologic deficits such as numbness, tingling, and difficulty walking. On the other hand, folate deficiency primarily affects the production of red blood cells and can cause anemia, but it does not typically result in neurologic symptoms. Therefore, the statement that there are neurologic deficits in Vitamin B12 deficiency and not in folate deficiency is true.

Low iron levels in the body can lead to decreased ferritin levels. Ferritin is a protein that stores iron in the body, so when iron levels are low, the body will have less ferritin available. On the other hand, low iron levels can also result in increased Total Iron Binding Capacity (TIBC). TIBC measures the amount of iron that can be bound to transferrin, a protein that transports iron in the blood. When iron levels are low, the body produces more transferrin to try and increase iron absorption. Therefore, decreased ferritin and increased TIBC are both associated with low iron levels.

When valine is substituted for glutamic acid, it means that in the genetic code, the codon that originally coded for glutamic acid now codes for valine. Homozygotes refers to individuals who have two copies of the same allele for a particular gene. In this case, homozygotes would have two copies of the valine allele, resulting in the substitution of valine for glutamic acid in both copies of the gene. Therefore, the correct answer is homozygotes.

Heterozygotes refers to individuals who have inherited different alleles for a particular gene. In the context of the given statement, it suggests that individuals who are heterozygotes for a certain gene related to Hgb (hemoglobin) have enough normal Hgb (60%) to prevent complications. This means that even though they have inherited one abnormal allele, the presence of the normal allele is sufficient to maintain a level of Hgb that is considered normal and does not lead to complications.

The correct answer is "Heterozygotes." In the context of sickle cell trait, heterozygotes refers to individuals who have inherited one normal hemoglobin gene and one sickle cell hemoglobin gene. This means that they carry the sickle cell trait but do not have the full-blown sickle cell disease. Heterozygotes may have some symptoms or complications related to sickle cell trait, but they generally have a milder form of the condition compared to homozygotes, who have inherited two sickle cell hemoglobin genes and have sickle cell disease.

The given symptoms of intense ischemic pain in multiple areas of the body, along with fever, nausea, and vomiting, are characteristic of sickle cell anemia. Sickle cell anemia is a genetic disorder that causes red blood cells to become misshapen and block small blood vessels, leading to tissue damage and pain. This occlusion of small vessels is the cause of the intense ischemic pain experienced by individuals with sickle cell anemia. Additionally, the other options (Vitamin B12 Deficiency Anemia, Folate Deficiency Anemia, Sequestration) do not typically present with the same pattern of symptoms described.

Overproduction of RBCs is Polycythemia

When iron levels are high, the body responds by decreasing the production of ferritin, a protein that stores iron. This is because there is already an excess of iron available and the body does not need to store more. Additionally, the total iron binding capacity (TIBC) increases in response to high iron levels. TIBC refers to the amount of iron that can be bound to transferrin, a protein that transports iron in the blood. With high iron levels, the body increases TIBC to try and bind and transport the excess iron. Therefore, the correct answers are increased ferritin and decreased TIBC.

Hgb S is the correct answer because it is associated with sickle cell disease, which is most commonly found in Equatorial Africa. Sickle cell trait provides some protection against malaria, which is prevalent in this region. Hgb A, Hgb F, Hgb SC, and Hgb C are not specifically linked to sickle cell disease or Equatorial Africa.

G6PD deficiency is a genetic condition that affects the red blood cells' ability to produce an enzyme called glucose-6-phosphate dehydrogenase (G6PD). This enzyme is essential in protecting the red blood cells from oxidative damage caused by certain chemicals or medications. Without enough G6PD, the red blood cells become more vulnerable to oxidative stress, leading to their destruction and the development of anemia. In contrast, hereditary spherocytosis and sickle cell disease are genetic disorders that affect the structure or function of red blood cells but do not directly relate to the inability to repair oxidative damage.

The symptoms described in the question, such as glossitis, diarrhea, peripheral neuropathy, subacute combined degeneration of spinal cord, positive Romberg test, ataxia, motor weakness, hyperreflexia, dementia, and psychiatric problems, are all consistent with Vitamin B12 deficiency anemia. This type of anemia occurs when there is a deficiency of Vitamin B12, which is necessary for the production of healthy red blood cells. Without enough Vitamin B12, the body is unable to produce enough red blood cells, leading to anemia. The symptoms described are common manifestations of this condition.

G6PD deficiency is a genetic disorder that affects the red blood cells. It is characterized by a deficiency of the enzyme glucose-6-phosphate dehydrogenase, which is necessary for the normal function of red blood cells. Certain drugs, such as aspirin and anti-malarial drugs, can trigger a reaction in individuals with G6PD deficiency, leading to the destruction of red blood cells and a condition known as hemolytic anemia. This explains why G6PD deficiency can be triggered by drugs, making it the correct answer in this case.

Thalassemia is a genetic disorder that affects the production of hemoglobin, the protein responsible for carrying oxygen in the blood. In thalassemia, there is a deficiency in the production of one or more of the globin chains that make up hemoglobin. Hemoglobin F (Hgb F) is the fetal form of hemoglobin and is normally present in small amounts in adults. However, in thalassemia, there is an increased production of Hgb F as a compensatory mechanism, as it has a higher affinity for oxygen than the other forms of hemoglobin. Therefore, the correct answer is Hgb F.

Sickle cell disease is an autosomal recessive genetic blood disorder characterized by abnormal red blood cells that are shaped like a sickle. This condition is caused by a mutation in the hemoglobin gene, resulting in the production of abnormal hemoglobin molecules. These abnormal red blood cells can cause blockages in blood vessels, leading to episodes of pain, organ damage, and an increased risk of infections. Sickle cell disease is inherited when both parents carry the mutated gene and pass it on to their child.

Normochromic normocytic anemia is characterized by normal red blood cell color (normochromic) and normal red blood cell size (normocytic). This type of anemia occurs when the production, lifespan, or function of red blood cells is impaired. It can be caused by various factors such as chronic diseases, kidney disease, bone marrow disorders, and certain medications. The normal color and size of the red blood cells indicate that there is no specific deficiency or abnormality in the cells themselves, but rather a disruption in the overall production or function of red blood cells.

Sequestration refers to the trapping of blood cells, particularly red blood cells, in the spleen. In this condition, the spleen becomes enlarged and traps all three types of blood cells (red blood cells, white blood cells, and platelets). This can lead to a decrease in the circulating blood cell count and can cause symptoms such as anemia. The other options listed, such as Sickle Cell Anemia, Vitamin B12 Deficiency Anemia, and Folate Deficiency Anemia, do not specifically involve the trapping of blood cells in the spleen.

Hereditary spherocytosis is the correct answer because it is a condition characterized by a missing enzyme that leads to abnormal red blood cell shape. This abnormal shape causes the red blood cells to be fragile and have a shorter lifespan of only 3 weeks instead of the normal 4 months. The condition also presents with symptoms such as mild jaundice, gallstones, and splenomegaly (enlarged spleen). This explanation fits with the given information provided in the question.

All of the options listed in the question are actually causes of megaloblastic anemia. A "tea and toast" diet refers to a diet that is deficient in essential nutrients, including vitamin B12 and folate, which can lead to megaloblastic anemia. Pregnancy can cause megaloblastic anemia due to increased demand for folate and vitamin B12. Chronic hemolytic anemia can lead to megaloblastic anemia as a result of increased red blood cell turnover and the need for increased production of new cells. Alcoholism can cause megaloblastic anemia due to malabsorption of nutrients, particularly vitamin B12 and folate. Therefore, the correct answer is that all of these options cause megaloblastic anemia.

Pernicious anemia is a type of anemia that occurs due to a deficiency of vitamin B12. Vitamin B12 deficiency can be caused by various factors, such as a lack of intrinsic factor, which is a protein produced by the stomach that helps in the absorption of vitamin B12. Additionally, a lack of absorption site in the intestines can also lead to B12 deficiency. Conditions like Crohn's disease, which affects the digestive system, can interfere with the absorption of vitamin B12. Atrophic gastritis, a condition characterized by inflammation of the stomach lining, can also cause pernicious anemia by reducing the production of intrinsic factor.

Anemia of Chronic Disease is a type of anemia that occurs as a result of underlying chronic inflammation or infection. It is commonly seen in conditions such as renal failure, subacute bacterial endocarditis, malignancy, vasculitis, inflammatory bowel disease, and autoimmune diseases. These conditions can lead to the production of inflammatory cytokines, which interfere with the body's ability to produce red blood cells, leading to anemia. Therefore, all of the options listed are potential causes of Anemia of Chronic Disease.

Folate deficiency can cause glossitis, which is inflammation of the tongue, and diarrhea. Folate is necessary for the production of red blood cells, and a deficiency can lead to anemia. Sickle cell anemia is a genetic disorder that affects the shape of red blood cells and is unlikely to present with glossitis and diarrhea. Vitamin B12 deficiency anemia can also cause glossitis, but it is less likely to cause diarrhea. Sequestration refers to the pooling of blood in the spleen and is not associated with glossitis or diarrhea. Therefore, the most likely explanation for the symptoms described is folate deficiency anemia.

Sickle cell anemia is a genetic disorder characterized by the presence of abnormal hemoglobin called hemoglobin S (Hgb S). This abnormal hemoglobin causes red blood cells to become sickle-shaped and sticky, leading to various complications. The given answer states that sickle cell anemia presents with a normal Hgb S band with hemoglobin electrophoresis, which is not true. In fact, the presence of Hgb S is a diagnostic feature of sickle cell anemia and can be detected through hemoglobin electrophoresis.

Hgb C is the correct answer because it is associated with a condition called Hgb C disease, which is commonly found in individuals of West African descent. This condition is characterized by the presence of Hgb C variant hemoglobin, which causes the red blood cells to have an abnormal shape. This abnormality leads to the formation of target cells, which can be observed on a blood smear. Additionally, individuals with Hgb C disease often have an enlarged spleen, which is a common finding in this condition.

The correct answer is Hgb SC because it is the only option that represents a combination of two different types of hemoglobin, Hgb S and Hgb C. The presence of Hgb SC indicates a diagnosis of sickle cell trait, which is characterized by the inheritance of one gene for Hgb S and one gene for Hgb C. The other options, Hgb A, Hgb F, and Hgb C, do not involve a combination of different hemoglobin types and are not associated with sickle cell trait.

Thalassemia is not a cause of congenital hemolysis. Congenital hemolysis refers to the destruction of red blood cells that occurs before or shortly after birth. The other options listed - hereditary spherocytosis, sickle cell disease, and G6PD deficiency - are all known causes of congenital hemolysis. Thalassemia, on the other hand, is a genetic blood disorder that affects the production of hemoglobin, but it does not directly cause the destruction of red blood cells.