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A 22-year-old medical student donates his blood as part of a clinical study. He is discovered to have persistent HbF (fetal hemoglobin) levels. He feels well, and his clinical examination is normal. Which of the following features about this condition is most likely true?
HbF is evenly distributed among red cells, unlike the increased F in other conditions. It is a heterogeneous condition, and can be classified into deletion and nondeletion forms.
A 19-year-old man had his spleen removed a year ago after a motorcycle accident. Which of the following findings on the blood film are most consistent with a previous history of splenectomy?
The spleen normally functions to pit nuclei and their fragments from red cells. These nuclear fragments are called Howell-Jolly bodies. The spleen has immune functions and filter functions. It also enhances iron reutilization, and acts as a reservoir and blood-volume regulator. In disease states, it can be a site of extramedullary hematopoiesis.
A 49-year-old man is involved in a motor vehicle accident, resulting in large amounts of blood loss and hypotension. He is initially given normal saline at the accident site, and on arrival at the hospital, the trauma team orders an emergent blood transfusion with type O “universal donor” packed red cells. Which of the following is a possible complication of unmatched type O blood?
Anti-A and anti-B in the donor plasma are usually absorbed in the recipient’s tissues but have the capacity to harm recipient cells.
A 9-year-old boy presents with fever, feeling unwell, and easy bruising on his legs. On examination he is pale, blood pressure 100/60 mm Hg, pulse 100/min, and temperature 37.8C. His lungs are clear, abdomen is soft with a palpable spleen, and there are petechiae and bruises on his legs. His CBC reveals a hemoglobin of 8.5 g/dL, WBC of 17,000/mL, and platelets of 30,000/mL. A blood film reveals neutropenia and leukemic lymphoblasts. Which of the following is the most appropriate initial diagnostic test to confirm the diagnosis?
In acute lymphoblastic leukemia (ALL), a bone marrow analysis is the most important test in confirming the diagnosis. Once the diagnosis of ALL is established, CSF fluid (leukemic cells in the CSF can be identified in up to a third of all patients at diagnosis) and CXR are important tests in the workup of the patient. It is the most common malignancy in children under age 15 in the United States, accounting for 25% of all cancers in White children. It is less common in Black children.
A 50-year-old White woman presents with a 3-week history of tiredness and pallor. A family member has noted some yellowness of her eyes, but she denies darkening of the urine. Physical examination reveals only slight jaundice. Laboratory data include hemoglobin of 9 g/dL, reticulocyte count of 8%, a bilirubin in the serum of 2 mg/dL (indirect reacting), and some microspherocytes on peripheral smear. The direct antiglobulin test (Coombs’) is positive. Which of the following is the most likely cause for her anemia?
This patient has autoimmune hemolysis and the red cell destruction is extravascular, usually occurring in the liver, spleen, or other reticuloendothelial sites. It liberates unconjugated bilirubin causing jaundice. Intrinsic causes of hemolytic anemia are usually inherited, and are a result of abnormalities of membranes, red cell enzymes, globins, or heme. Extrinsic hemolysis is a result of mechanical forces, chemicals or microorganisms, antibodies, or sequestration in the monocyte-macrophage system.
A 24-year-old man is suspected of having mycoplasma pneumonia based on his symptoms of dry cough and chest x-ray findings. He is also anemic with hemoglobin of 10.5 g/dL, and hemolytic anemia from cold agglutinins is suspected. Which of the following is consistent with hemolytic anemia?
In hemolytic anemia the haptoglobin is decreased, reticulocyte count increased, and unconjugated bilirubin increased. There is no bilirubin in the urine because unconjugated bilirubin is not cleared by the kidney as it is tightly bound to plasma proteins.
A 57-year-old man, with a history of chronic alcohol ingestion, is admitted to the hospital with acute alcoholic intoxication and lobar pneumonia. Physical examination reveals pallor; a large, tender liver; and consolidation of the right lower lobe. Laboratory data include hemoglobin of 7 g/dL, WBC of 4000/mL, and platelet count of 85,000/mL.Which of the following is the most likely factor for the anemia?
Anemia is usually multifactorial in alcoholics and includes marrow suppression, GI bleeding, hemorrhagic diathesis, and nutritional deficiency.
A 82-year-old woman is brought to the hospital because of functional decline at home and an inability to care for herself. She has a prior history of hypertension and dyslipidemia, and her medications include hydrochlorothiazide and atorvastatin. She looks disheveled, pale, and has muscle wasting; her heart and lungs are clear and there are no focal neurologic findings. Her hemoglobin is 9 g/dL, MCV 105 fL, WBC 4500/mL, and platelets 100,000/mL. The blood film shows macrocytic RBCs and hypersegmented neutrophils. Which of the following vitamin deficiencies is most likely responsible for her pancytopenia?
The macrocytosis and hypersegmented neutrophils suggests a megaloblastic anemia due to either folate or vitamin B 12 deficiency. Folate deficiency results from decreased intake and malabsorption. Body folate stores are meager (only 3 months on average, compared to a few years for vitamin B12), and therefore easily depleted when intake is poor. Alcohol itself can depress folate levels acutely, and also can cause pancytopenia directly.
A 39-year-old man with chronic alcoholism is brought to the hospital after a fall, while intoxicated. He has completely recovered except for a bruise on his shoulder. His only abnormality is low hemoglobin of 9.6 g/dL, the platelets and WBC are normal. Additional tests including ferritin, vitamins B 12 , and folate are normal. Which of the following findings is most likely to be seen on his peripheral blood film?
Macrocytosis is frequently seen in patients with chronic alcoholism for multiple reasons including vitamin B12 or folate deficiency, chronic liver disease, and also from the direct toxic effects of alcohol on red cells. Because both iron deficiency and folate deficiency are very common in alcoholics, a dimorphic blood film can also be seen (macrocytes, hypersegmented neutrophils, and hypochromic microcytes can be found) on the same slide.
A 56-year-old woman presents with feeling light-headed when standing up and 3 days of passing dark black stools. She has past history of chronic viral hepatitis B, and has developed cirrhosis. On examination she is alert, blood pressure is 90/60 mm Hg supine and 76/60 mm Hg standing. Her abdomen is distended with signs of ascites, nontender, and there are multiple bruises on the legs. Her hemoglobin is 9.0 g/dL, platelets 90,000/mL, albumin 3 g/dL, bilirubin 1.3 mg/dL, and international normalized ratio (INR) 2.5 (prothrombin time [PT] 25 seconds). Which of the following coagulation factors are most likely deficient in this patient?
Coagulation factors II, V, VII, IX, X, and XI would most likely be deficient. These are some of the factors that are synthesized in the liver. Factors II, VII, IX, and X are the vitamin Kdependent factors, which are also synthesized in the liver.
A 18-year-old man, of Italian extraction, is found to have a hypochromic microcytic anemia of 10 g/dL. In addition, there is a fair degree of anisocytosis, poikilocytosis, and targeting on the blood film. The WBC is 9500/mL, the platelet count is 240,000/mL, and the reticulocyte count is 7%. The spleen is palpated 5 cm below the left costal margin. Which of the following is the most likely diagnosis?
Thalassemia minor usually represents a heterozygous state and is often asymptomatic. Symptoms may develop during periods of stress such as pregnancy or severe infection. Hemoglobin values are usually in the 9–11 g/dL range. The red cells are small and poorly hemoglobinized.
A 28-year-old man, originally from West Africa, is found on routine examination to have splenomegaly. His hemoglobin is 9.5 g/dL, and blood film examination reveals target cells. Which of the following is the most likely abnormal hemoglobin in this man?
HbC characteristically produces targeting in the peripheral blood and also hemoglobin crystals in the cells. HbC is found in 17–28% of West Africans. Splenomegaly is a fairly constant feature, but most patients are quite asymptomatic.
A 42-year-old man is feeling chronically fatigued. His hemoglobin is 11.5 g/dL, and the blood film is hypochromic and microcytic. The serum iron is increased, total iron-binding capacity (TIBC) is normal, ferritin is increased, and HbA2 is decreased.
Sideroblastic anemia is associated with an increased serum iron and ferritin. TIBC is generally normal. HbA2 is usually decreased.
An 18-year-old woman is feeling chronically fatigued. Her hemoglobin is 11.5 g/dL, RBC count 5,900,000/mL, and the blood film is hypochromic and microcytic. The serum iron is normal, TIBC is normal, ferritin is normal, and HbA2 is elevated.
The beta-thalassemia trait is characterized by normal iron studies and an elevated HbA2
A 67-year-old man presents with fatigue due to a low hemoglobin value of 9.2 g/dL. The blood film shows hypochromic microcytic cells. His serum iron is decreased, TIBC is increased, ferritin is decreased, and HbA2 is normal.
Iron deficiency is characterized by low serum iron and ferritin and an increase in TIBC. HbA2 is normal.
A 43-year-old man, in hospital for 2 weeks with pancreatitis, is anemic with hemoglobin of 9.7 g/dL and MCV 79 fL. The blood film shows slightly microcytic hypochromic red cells, and the reticulocyte count is 0.5 %. The serum is iron decreased, TIBC is decreased, serum ferritin is increased, and HbA2 normal.
Anemia of chronic disease is characterized by decreased serum iron and TIBC, an elevated ferritin, and normal HbA2.
A 52-year-old man is complaining of fatigue. His physical examination is normal, but his hemoglobin is low at 8.9 mg/dL. The reticulocyte count is 0.5 %, serum iron and TIBC are normal, and ferritin is elevated. A bone marrow aspirate reveals erythroid precursors that have accumulated abnormal amounts of mitochondrial iron.
Erythroid precursors that have accumulated abnormal amounts of iron are called ringed sideroblasts. Sideroblastic anemia can be either inherited or acquired. Common acquired causes are ingestion of certain drugs, alcohol, or toxins such as lead or zinc. The beta-thalassemia trait is diagnosed by demonstrating an elevated HbA2, iron deficiency by iron studies and ferritin levels, and anemia of chronic disease by demonstrating a chronic disease. Sideroblastic anemia generally requires a bone marrow aspiration revealing ringed sideroblasts for diagnosis.
Found in severe liver disease.
Burr cells and stomatocytes are found in severe liver disease and might result from abnormal membrane lipids.
Represent precipitated Hb.
Heinz bodies (precipitated Hb) are found in disorders with unstable Hb or after oxidant stress.
Caused by loss of red cell membrane.
Spherocytes are caused by loss of membrane, as in hereditary spherocytosis or autoimmune hemolytic anemia.
Caused by polymerization of an abnormal Hb.
Sickle cell disease results in polymerization of HbS and the characteristic sickle cells.
Caused by trauma to red cell membranes.
Schistocytes are caused by traumatic disruption of the red cell membrane (e.g., microangiopathic syndromes).
A 23-year-old man presents with prolonged nose bleeds. He has always noted easy bruising, and ongoing bleeding after minor cuts. There is no prior history of surgery or dental procedures. His hemoglobin is 14.5 g/dL, platelets 200,000/mL, and PT/PPT is normal. Further testing reveals that the bleeding time is elevated; the factor VIII level is reduced, as is the ristocetin cofactor assay.
von Willebrand’s disease is the most common inherited bleeding disorder. The abnormal plasma glycoprotein, von Willebrand factor (vWF), has two major functions: facilitating platelet adhesion and serving as a carrier for factor VIII. The disease is heterogeneous in its manifestations but can be very severe (type III disease). Evaluation reveals a prolonged bleeding time and decreased factor VIII activity
An 18-year-old man develops excessive bleeding 2 hours after wisdom tooth extraction. He has a history of easy bruising after playing sports, and of minor cuts that rebleed. His examination is normal, except for the tooth extraction site, which is still oozing blood. His hemoglobin is 14.8 g/dL, platelets 230,000 mL, PT is normal, and partial thromboplastin time (PTT) is elevated. A bleeding time is normal, factor VIII level is reduced, factor IX is normal, and ristocetin cofactor assay is normal.
Hemophilia A results from a deficiency or dysfunction of the factor VIII molecule. It is a sex-linked disease affecting 1 in 10,000 males. The PTT is prolonged, but the bleeding time is characteristically normal.
A 19-year-old man is brought to the hospital after injuring his knee playing football. The knee is swollen and painful to move. He has no prior history of bleeding disorders. Arthrocentesis of the knee reveals 20 cc of blood. Further investigations show that his platelets are 170,000/mL, PT is normal, PTT is elevated, bleeding time is normal, factor VIII is normal, factor IX is reduced, and the ristocetin cofactor assay is normal
Hemophilia B is clinically indistinguishable from hemophilia A and is also inherited via the X chromosome. The bleeding time is usually normal, but the PTT is usually elevated. Differentiation from hemophilia A requires factor assay.
A 27-year-old woman presents with nose bleeds, rash on her feet, and fevers. She looks unwell, pale, jaundiced, and there are multiple petechiae on her feet. The lungs are clear, heart sounds normal, and abdomen is soft with no palpable spleen or liver. Her bilirubin is 2 mg/dL (mostly indirect), aspartate amino transferase (AST), alanine amino transferase (ALT), alkaline phosphatase (ALP) are normal. The hemoglobin is 8.7 g/dL, platelets 24,000/mL, PT/PTT normal, and bleeding time is elevated. The blood film reveals anemia, thrombocytopenia, and red cell fragments.
TTP is a fulminant disorder that can be fatal. It has been associated with malignancy, pregnancy, metastatic cancer, and high-dose chemotherapy. Most often, the classical tests of hemostasis and platelet function are normal. The classical symptoms include fever, thrombocytopenia, microangiopathic hemolytic anemia, renal failure, and fluctuating neurologic defects.
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