Flashcards in Red Cell and Platelet Disorders Deck (47):
Patients with a change in the beta globin gene from Glu to Val at AA 6 are more succeptible to an aplastic crisis from this virus:
Presents with strokes in early childhood, splenic sequestration, megaloblastic anemia, acute chest syndrome, and more frequent infection by encapsulated bacteria.
Sickle Cell Anemia
Clinical manifestations of a patient with 60% HbA and 40% HbS
Clinically benign, presents with sub-clinical renal damage- Impaired urine concentration and microhematuria (Sickle cell trait)
Genetic defect in disease that presents with Hb levels of 10-12, sickling with dehydration, and is more mild and variable than sickle cell disease.
Glu to Lys substitution at 6th AA (Hemoglobin SC disease)
Management of Sickle Cell
Infection prophylaxis, hydroxyurea, transfusions, allogeneic stem cell transplant
Disease presenting with numerous target cells, spherocytes and occasional C crystals on blood smear
Class of autosomal inherited disease with decreased production of structurally normal globin chains. Presents with extravascular hemolysis, secondary hemachromatosis, skeletal deformities.
Symptoms a child with a Hb of 2-3 (all HbF) and absence/decreased beta chains on both alleles will experience from treatment.
Absent pubertal growth and period, DM, adrenal insufficiency, fatal cardiac disease in 20's. (Iron Overload Symptoms, from transfusion treatment for beta-thal major)
Symptoms of inadequately treated beta-thal major
Increased pigmentation, hyperuricemia, spontaneous fractures, hepatosplenomegaly, folate deficiency, death in childhood
Beta-thal Minor (heterozygote)
Hypochromia, targeting, erythroblastosis
Beta-thal major blood smear
Mild Anisopoikilocytosis, scattered target cells, basophilic stippling
Beta-thal minor blood smear
Asymptomatic forms of alpha-thalassemias
Silent carrier-1 gene deletion
Alpha-Thal trait- 2 gene deletion (possible mild microcytic anemia)
Symptomatic forms of alpha-thalassemias
Hemoglobin H- 3 gene deletion (impaired O2 transfer)
Hydrops Fetalis-4 gene deletion (Fatal)
Most common defect in disease that presents with splenomegaly, increased risk of aplastic anemia by parvovirus, increased gallstones, negative DAT and spherocytes on smear. Extravascular.
Defect in Ankyrin-50% of cases (Hereditary Spherocytosis)
Other causes: Band 3 (15%), Band 4.2, alpha/beta-spectrin
Method of inheritance of the most commonly inherited anemia
Autosomal (75%), sporadic (25%). (Hereditary Spherocytosis.
The presence of heinz bodies indicates a disease with what type of inheritance mode?
X-Linked (G6PDH deficiency)
Extra and intravascular hemolysis. Denaturation due to inability to reduce oxidant stress. Can diagnose with an assay and fluorescence.
3 types of disease presenting with "bite cells"
G6PDA-moderate, in African Americans
G6PDmed-severe, in whites
TREATMENT of IgG and compliment mediated anemia associated with B-cell lymphoproliferative disorders, autoimmune disorders, non-blood cancers, and methyldopa and cephalosporins.
Corticosteroids (Warm autoimmune hemolytic anemia-reacts at 37 degrees C)
ANTIBODY that mediates anemias with extravascular (liver > spleen) and intravascular hemolysis. Found in acute (post-infectious) and chronic (lymphoproliferative disorders) form.
IgM (Cold autoimmune hemolytic anemia-reacts at less than 30 degrees C)
If you find Schistocytes on blood smear, CNS symptoms, Thrombocytopenia, Fever, Renal Insufficiency, what test should you run?
ADAMTS13 -A mutation results in improper cleavage of von Willebrand Factor (Thrombotic Thrombocytopenic Purpura)
Causes of shearing and lysis of cells in anemia associated with malfunctioning heart valve, DIC, TTP, metastatic carcinoma, malignant hypertension.
Turbulent flow, vascular obstruction (Microangiopathic anemia)
Acquired anemia causing pancytopenia, hemoglobinuria and hypercoaguability. Caused by a Stem Cell deficiency in GPI linker proteins. Which CDs are deficient?
CD55 and CD59 (PNH)
A 65 year old presents with a microcytic, hypochromic anemia with pronounced anisopoikilocytosis, decreased ferritin and increased TIBC. What is the most likely cause of the diagnosis?
Gastrointestinal Carcinoma (Iron Deficiency Anemia)
Microcytic and hypochromic anemia, decreased TIBC, increased Ferritin. Most common cause of anemia in hospitalized patients. Which inflammatory marker is elevated?
Hepcidin (Anemia of Chronic Disease)
Normochromic and normocytic anemia with echinocytes (Burr cells) on blood smear. Associated with chronic kidney disease. What is the treatment?
Recombiant EPO (Anemia of Renal Failure)
Macrocytic and associated with pancytopenia. Associated with cirrhosis and chronic hepatitis.
Anemia of Liver Disease
Macrocytic anemia. Anisopoikilocytosis and hypersegmented neutrophils. Pancytopenia, low reticulocytes. Increased methylmalonic acid. Neuro defects. Where is the deficient molecule absorbed?
Ileum (Vitamin B12 deficiency/Pernicious anemia)
Macrocytic anemia, hypersegmented PMNs. Pancytopenia. Decreased serum folate and normal methylmalonic acid. Which drugs can cause this?
Methotrexate-Dihydrofolate reductase inhibitor (Folate Deficiency)
Normochromic and normocytic anemia. Pancytopenia. Stem cell disorder due to short telomere length (TERT/TERC mutation), can become MDS or AML. How is this diagnosed?
Camitta Criteria-2/3 PMNs, platelets, reticulocytes low; hypocellular bone marrow (Aplastic Anemia)
Selective inhibition of erythroid precursors. Normocytic and normochromic. Autoimmune destruction of precursors? Associated with thymic hyperplasia, large granular lymphocytic leukemia, drugs, autoimmune disease.
Pure Red Cell Aplasia
Metastatic carcinoma infiltrating the bone marrow, leukoerythroblastic reaction. What is seen on the blood smear?
Teardrop cells (Myelophthistic Anemia)
Abrupt onset of severe thrombocytopenia in a child caused by autoantibodies binding to platelet glycoproteins and decreased platelet survival. Results in mucocutaneous bleeding, increased megakaryocytes. Usually resolves on its own. What causes this disease?
Antibody mediated platelet destruction, causing mucocutaneous bleeding that does not resolve on its own. How is this treated?
Immune mediated binding of Heparin PF4 to IgG via Fc receptor, increases thrombotic events. Treat by stopping Heparin and giving argatroban or bivalirudin. How many days after initial therapy does this reaction occur?
4-14 days (Heparin-Induced Thrombocytopenia)
Patient presents with renal failure, mental status changes and fever. They test positive for a ADAMTS13 mutation. What type of cells are visible on blood smear?
Schistocytes (Thrombotic Thrombocytic Purpura)
Patient presents with mucocutaneous bleeding and a normal PT. They improve with desmopressin. What factor is carried by the protein deficient in this patient?
Factor 8 (Von Willebrand's Disease)
Congenital absence of GP1b
Bernard Soulier Syndrome
Congenital absence of GPIIb/IIIa
Patient presents with hemarthrosis and deep bleeding. They have a prolonged PTT, corrects on 1:1 mix. The disorder was autosomally inherited. What is the deficient factor?
11 (Hemophilia C)
Patient presents with hemarthrosis and deep bleeding. They have a prolonged PTT, corrects on 1:1 mix. This disorder may be additionally affected by a vWF deficiency. What is this disorder?
Hemophilia A (Factor 8 is carried by vWF)
Patient presents with hemarthrosis and deep bleeding. They have a prolonged PTT, corrects on 1:1 mix. They are found to have a deficiency in factor 9. How is this disorder inherited?
X-linked (Hemophilia B)
Vitamin K dependent Factors
2, 7, 9, 10, C and S
Increased risk of DVT, 10 more frequent than other deficiencies. Arg506 is replaced with Gln. The PTT does not prolong with additions of protein C. What is the diagnosis?
Factor 5 Leiden Deficiency (Resistance to activated protein C)
Elevated factor 2 levels, increased risk for DVT/PE. What is the mutation causing this?
G20210A (Prothrombin gene variation)