Anemia Lab PDF

Foundation Block: Anemia Team Learning GAP Candace Reveles, MD & William Joaquin Adamàs-Rappaport MD [email protected]  Introduction Review the normal peripheral blood smear. To evaluate RBC size, compare the RBCs to the nucleus of a small lymphocyte. Macrocytic RBCs...

Foundation Block: Anemia Team Learning GAP Candace Reveles, MD & William Joaquin Adamàs-Rappaport MD [email protected]  Introduction Review the normal peripheral blood smear. To evaluate RBC size, compare the RBCs to the nucleus of a small lymphocyte. Macrocytic RBCs are larger but microcytic RBCs are smaller than the nucleus of a small lymphocyte. The amount of hemoglobin in a cell can be estimated by the size of the RBC central pallor. In normal RBCs, the central pallor should take up about one-third of the RBC diameter. Hypochromic RBCs have larger central pallor Notice whether the RBC vary in size and whether there are unusual shapes Also, review WBCs and platelets for any clues to the etiology of anemia.  NORMAL PERIPHERAL BLOOD SMEAR Notice the RBCs are normochromic normocytic and show only a slide variation in size. There are no RBC with abnormal shapes RBC Indices Hemoglobin (Hb): measured hemoglobin concentration (g/dL) Hematocrit (Hct): ratio of the volume of RBC to the volume of plasma (%) MCV: average size and volume of RBC (fL) MCH: average amount of Hgb in a single RBC (pg) MCHC: concentration of Hgb in a given volume of packed RBC (g/dL) Reticulocyte count: immature erythrocytes containing RNA; Reflects bone marrow production capacity All test results are reported with normal ranges Case 1. Case 1, Clinical history A 21-year-old woman presents to her new primary care physician for annual check-up. She has no complaints. She has a history of anemia, but she doesn’t recall the type, and she reports a family history of “chronic anemia” in her mother. Case 1, Physical exam General: Well-nourished woman in no acute distress Vital signs: T 370C; Pulse 68 bpm; blood pressure 100/60 mmHg; respiration rate 14/min HEENT: mucous membranes moist; Heart: RRR; Lungs: clear to A & P bilaterally Abdomen: soft, nontender, normal bowel sounds; spleen palpable just below the left costal margin; liver not palpable Extremities: unremarkable Neuro: Cranial nerves II-XII intact; no focal findings A complete blood cell (CBC) count and basic metabolic panel (BMP) are ordered. The results of the BMP are within normal limits except for slight elevation of unconjucated hemoglobin.  Case 1 Test Patient Result Reference Range CBC and Platelet count 9,500/uL (normal WBC 3,400-10,000/uL differential) RBC 4.4 x 10^6/uL 4.4 – 5.6 10^6/uL Hb 9.8 g/dL L 11.5 g/dL – 15.5 g/dL HCT 29.4% L 35-45% MCV 79 fL 79-99 fL MCH 33.4 pg 27-34 pg MCHC 38 g/dL H 33-35 g/dL RDW 21.7% H 8.5-14.8% Platelet count 388,000/uL 150,000-425,000/uL Retic count % 5.5% H 0.9-2.0% Retic count, abs. 214 x 10^6/uL H 40-115 10^6/uL Total bilirubin 1.6 mg/dL H 0.3-1.2 mg/dL Direct bilirubin 0.2 mg/dL 0.1-0.4 mg/dL The rest of the basic metabolic panel is normal In addition to the labs, which findings on the physical exam are relevant to her diagnosis? A. Overall: well-nourished woman in no acute distress B. Normal vital signs: T 370C P 68 bpm BP 100/60 mmHg RR 14/min C. Normal heart rate and respiration D. Palpable spleen E. Neurologic exam Which combination of laboratory results supports the diagnosis? A. RBC count, Hb, Hct and RDW B. Hb, Hct, MCV, and RDW C. RBC count, Hb, Hct, and platelet count D. RBC morphology, Hb, Hct, MCHC, reticulocyte count, and unconjucated bilirubin E. WBC, Hb, Hct, MCV, and platelet count Based on the clinical history and lab findings, how would you classify this anemia? A. Hereditary hemolytic B. Hypoplastic/hypoproliferative C. Iron deficiency D. Microangiopathic hemolytic anemia E. Anemia of chronic disease Which additional lab test(s) are needed to confirm the diagnosis? A. Osmotic fragility and or EMA binding test by flow cytometry B. Sequencing of the alpha globin gene C. Hemoglobin electrophoresis D. Sequencing the ankyrin gene E. No additional testing necessary What is your diagnosis? A. G6PD deficiency B. Hereditary spherocytosis C. Iron deficiency D. B12/folate deficiency E. Sickle cell anemia Case 2 Case 2, Clinical history A 10-month-old previously well African-American boy has swelling of the hands and feet that has developed within the past 12 hours. He has been irritable for the past 2 days with a runny nose and cough but has been inconsolable for about 3 hours. His gestational and delivery history are unremarkable. He is up-to-date with all immunizations. Case 2, Physical exam General: Crying infant, inconsolable, will not take bottle, appears to be in pain Vital signs: T 39.20C P 160 bpm BP 95/65 mmHg RR ~30/min (crying) HEENT: mucous membranes moist and pink Heart: rapid, but regular; no murmurs or gallops Lungs: clear to A & P bilaterally Abdomen: soft, nontender, no masses, normal bowel sounds Extremities: hands and feet are swollen, erythematous, and warm; baby withdraws to light touch Normal neurologic exam A sepsis work-up is initiated including CBC, BMP, blood culture. An intravenous line is placed for fluids, antibiotics, and pain medicine. You are asked to review the CBC and peripheral blood smear  Case 2, CBC Reference Range Test Patient (Pediatric) CBC and Platelet count WBC 14,100/uL (96% neutrophils) H 6,000-17,500/uL RBC 3.22 x106 3.1-4.5 x106 HGB 9.4 g/dL L 9.5 g/dL – 13.5 g/dL HCT 26.7% L 33-39% MCV 82 fL 70-84 fL MCH 29.2 pg 27-34 pg MCHC 34.2 g/dL 33-35 g/dL RDW 25.6% H 8.5-14.8% Platelets 503,000/uL H 150,000-425,000/uL MPV 9.5 fL 5.5-10.5 fL Basic metabolic panel is normal Which combination of lab test results supports the diagnosis? A. RBC morphology, Hb/Hct, and red cell distribution with (RDW) B. Hb/Hct, MCV, and MCHC C. RBC count, Hb/Hct, and platelet count D. Hb/Hct, MCV, MCHC, and normal bilirubin E. WBC, Hb/Hct, MCV, and platelet count Which findings on the physical exam would be helpful to establish the right diagnosis? A. Presence of acute distress B. Vital signs: T 39.20C P 160 bpm BP 95/65 mmHg RR ~30/min (crying) C. HEENT: mucous membranes moist D. Heart: rapid, but regular; no murmurs or gallops E. Extremities: hands and feet are edematous, erythematous, and warm; withdraws to light touch Which additional lab test(s) are needed to confirm the diagnosis? A. Osmotic fragility and or EMA binding test by flow cytometry B. Sequencing of the alpha globin gene C. Hemoglobin electrophoresis D. Sequencing the ankyrin gene E. No additional testing necessary How would you classify this anemia? A. G6PD deficiency B. Hypoplastic/hypoproliferative C. Sickle cell disease D. Iron deficiency E. Anemia of chronic disease/anemia of inflammation Case 3 Case 3, Clinical history A 75-year-old woman presents to her primary care doctor complaining of one-month lower extremity weakness and tingling. Review of systems is remarkable for two recent nosebleeds. She has also been taking increasing amounts of antacids for “heartburn”. Case 3, Physical exam General: Pale, thin, elderly woman in no acute distress Vital signs: T 38.10C P 88 bpm BP 96/60 mmHg R 18/min; HEENT: mucous membranes erythematous and dry; tongue is shiny and red; Heart and Lungs: unremarkable Abdomen: soft, nontender, normal bowel sounds, no masses; Neurologic exam: Slightly diminished strength (4+/5) in all extremities; diminished sensation (position, touch, and pain) in all fingers and toes, but normal starting at the wrists and ankles Case 3 Test Patient Reference Range CBC and platelet count WBC 3,200/uL L 3,400-10,400/uL RBC 3.05 106/uL L 4.4 – 5.6 106/uL HGB 9.6 g/dL L 11.5-15.5 g/dL HCT 34.4 % L 35-45 % MCV 112.9 fL H 79-99 fL MCH 31.4 pg 27-34 pg MCHC 27.9 g/dL L 33-35 g/dL RDW 18.4 H 8.5-14.8 Platelet count 51,000/uL L 150,000-425,000/uL MPV 7.9 fL 5.5-10.5 fL Differential count Normal Reticulocyte count 2.0% 0.5 – 2.0 % Which combination of laboratory findings supports the diagnosis? A. RBC morphology, Hb/Hct and red distribution with (RDW) B. Hb/Hct, MCV, and reticulocyte count C. RBC count, Hb/Hct, and platelet count D. Hb/Hct, MCV, MCHC, and normal bilirubin E. WBC, abnormal neutrophils, Hb/Hct, MCV, and platelet count Which physical exam finding(s) are relevant to the diagnosis? A. General appearance B. Vital signs: T 38.10C P 88 bpm BP 96/60 mmHg R 18/min C. Mucous membranes erythematous and dry; tongue is shiny and red and abnormal neurologic exam D. RRR Lungs: abdomen: soft, nontender, normal bowel sounds, no masses Which additional lab test(s) are needed to confirm the diagnosis? A. Osmotic fragility B. Serum B12 and folate C. Iron panel: serum iron, iron binding capacity, and ferritin D. Sequencing the ankyrin gene E. Hematologic malignancy panel by next generation sequencing What is the most likely diagnosis? A. Hereditary spherocytosis B. Macrocytic/hypoproliferative anemia due to B12 or folate deficiency C. Hemoglobinopathy D. Iron deficiency E. Anemia of inflammation Case 4 Case 4, Clinical History A 71-year-old woman presents to a walk-in clinic with a 3-month history of progressive fatigue, weakness, and malaise. Past medical/surgical history: hysterectomy at age 56 for uterine prolapse, myocardial infarction at age 62, hypercholesterolemia, and hypertension. The review of systems reveals that she gets palpitations and dyspnea with mild exertion. She sleeps at least ten hours every night and still feels tired when she wakes in the morning. She has been a little constipated lately but has not had any genitourinary problems. All other systems are negative. Family medical history: father died of a stroke at the age of 74 and mother died of pneumonia at the age of 81. She has one sister who also has hypertension and hypercholesterolemia. Case 4, Physical exam General: Small, pale, frail-looking woman in no acute distress vital signs: T 36.9 C P 92 bpm BP 90/55 mmHg R 16/min HEENT: mucous membranes dry and pale Heart: rapid, but regular, no murmurs Lungs: clear to A & P bilaterally Abdomen: soft, nontender, normal bowel sounds; no masses Extremities: No c/c/e Neuro: Cranial nerves II-XII intact; no focal findings Case 4 Test Patient Reference Range CBC and platelet count WBC 6,500/uL 3,400-10,400/uL RBC 2.91 106/uL L 4.4 – 5.6 106/uL HGB 5.0 g/dL L 11.5-15.5 g/dL HCT 16.9 % L 35-45 % MCV 57.8 fL L 79-99 fL MCH 17.2 pg L 27-34 pg MCHC 29.6 g/dL L 33-35 g/dL RDW 16.2 H 8.5-14.8% Platelet count 535,000uL H 150,000-425,000/uL MPV 5.9 fL 5.5-10.5 fL Differential count Segmented 59 % 40-75 % neutrophils Lymphocytes 29 % 15-50 % Monocytes 10 % 0-12 % Eosinophils 1% 0-6 % Basophils 1% 0-2 % Reticulocyte count 2% 0.5-2.0% Which combination of laboratory findings supports the diagnosis? A. Hb/Hct and MCV B. Hb/Hct, MCV, RDW, and platelet count C.Hb/Hct, MCV, MCHC D. WBC, Hb/Hct, MCV, and platelet count Is the bone marrow (BM) response adequate for this degree of anemia? A. Normal, 2%, reticulocyte count indicates adequate BM response B. While 2% reticulocytes is normal, due to the overall decrease in RBC number, the corrected reticulocyte count is lower and indicates suboptimal BM response C. If the patient has anemia, the bone marrow response is always suboptimal D. Reticulocyte count is not reflective of the bone marrow production E. The patient needs bone marrow biopsy to determine the bone marrow production capacity Which additional lab test(s) are needed to confirm the diagnosis? A. Osmotic fragility and or EMA binding test by flow cytometry B. Iron studies C. Hemoglobin electrophoresis D. Sequencing the Ankyrin gene E. Bone marrow biopsy What is the most likely diagnosis? A. G6PD deficiency B. Hypoplastic/hypoproliferative C. Sickle cell disease D. Iron deficiency anemia E. Anemia of inflammation Appendix Pathologic Red Blood Cell Forms nucleated RBC spherocytes blister cells acanthocytes schistocytes bite cells Pathologic Red Blood Cell Forms tear drop cells sickle cells Howell-Jolly bodies target cells Pathologic Red Blood Cell Forms  basophilic stippling Pappenheimer bodies Pathologic Red Blood Cell Forms