Disorders Flashcards
(25 cards)
Chédiak-Higashi syndrome
Autosomal recessive
Large, gray-green peroxidase-pos granules in PMNs
WBC’s unable to degranulate and kill bacteria
Present with photophobia and skin hypopigmentation
Fatal early in life
Hypersegmentation of PMNs
5 or more lobes
Megaloblastic anemia due to vitamin B12 or folate deficiency
Pelger-Huët anomaly
Autosomal dominant
Bi-lobed, dumbbell or peanut shaped
Functionally normal
Pseudo Pelger-Huët
Can be drug induced or myeloproliferative/myelodysplastic syndromes
Usually round instead of dumbbell, seen with hypogranulation
May-Heflin anomaly
Autosomal dominant
Döhle-like inclusions, gray-blue and spindle/cigar shaped
Functionally normal
Giant platelets, thrombocytopenia, clinical bleeding
Alder-Reilly anomaly
Autosomal recessive
Large azurophilic granules in all or only one cell line
Functionally normal
Multiple myeloma
B cell production of excessive IgG, decrease in other immunoglobulins
Skeletal system tumors/lesions, hypercalcemia, increased blood viscosity, prolonged bleeding, Bence Jones protein in urine
Rouleaux, increased ESR
Waldenström macroglobulinemia
B cell production of excessive IgM, decreased others
Lymphadenopathy, hepatosplenomegaly, increased blood viscosity
Rouleaux, increased ESR
Hodgkin lymphoma
40% of lymphomas
Reed-Sternberg cells in lymph biopsies, more often males
Anemia, eosinophilia, monocytosis, increased LAP, increased ESR
Non-Hodgkin lymphoma
60% of lymphomas, more often in males, usually over 50
Enlarged lymph’s and GI tumors, B cell neoplasms, slow or aggressive
Essential thrombocythemia
Proliferation of megakaryocytes
Adults over 60, platelets greater than 1000x10^9
Polycythemia Vera
Increase in all cell lines (RBC’s most even with decreased erythropoietin)
High blood viscosity (high blood pressure, stroke, heart attack)
Treat with phlebotomy
Secondary polycythemia
Increased RBC due to increase erythropoietin or tissue hypoxia (plasma, leukocytes, and platelets all normal)
Pseudo-polycythemia
Decreased plasma volume with normal RBC amount caused by dehydration
Increased Hgb
Normal leukocyte, platelet, and erythropoietin
Iron-deficiency anemia
Low Hgb, Hct, RBC’s, and reticulocytes
High RDW
Ovalocytes
Anemia of chronic disease
Inability to use available iron for Hgb production
Increased ESR, normocytic/microcytic normochromic
Sideroblastic anemia
Blocks in protoporphyrin pathway, defective Hgb synthesis, iron overload
Ringed sideroblasts, sideocytes, Pappenheimer bodies, microcytic hypochromic
Lead poisoning
Blocks in protoporphyrin pathway affecting heme synthesis
Normocytic normochromic with basophilic stippling
Porphyria
Inherited block in protoporphyrin pathway
Megaloblastic anemia
Defective DNA synthesis (lack of Vitamin B12 or folate)
Macrocytic normochromic, hypersegmented PMNs, Howell-Jolly bodies, nRBCs, basophilic stippling, Pappenheimer bodies, Cabot rings
B12 deficiency has CNS involvement, folate deficiency has no CNS involvement
Pernicious anemia
Deficiency of intrinsic factor, GI issues, megaloblastic anemia
Fanconi anemia
Genetic aplastic anemia, autosomal recessive, seen with ALL, normocytic normochromic, no response to erythropoietin
G6PD deficiency
Sex linked enzyme defect
Oxidized Hgb to methemoglobin, denatures to Heinz bodies
Usually fine until oxidatively challenged
Pyruvate kinase deficiency
Autosomal recessive
Reduces life span of RBCs, hemolytic anemias with reticulocytosis and echinocytes
