Term
|
Definition
| variation in SIZE of RBCs |
|
|
Term
|
Definition
| variation in SHAPE of RBCs |
|
|
Term
|
Definition
| marrow retic released prematurely into blood, aka polychromatophilic RBC on pbs, usually enlarged and bluish. if present, divide retic count by 2. |
|
|
Term
| Common lymphoid progenitor |
|
Definition
| non self-renewing, gives rise to B, T, and NK cells. |
|
|
Term
| Common Myeloid progenitor |
|
Definition
| non self-renewing, gives rise to all granulocytes, monocytes/MPs, Megakaryocytes, and RBCs. |
|
|
Term
|
Definition
| self renewing cells that can difftiate into progenitors of all blood cell lineages. mostly in G0, but can proliferate rapidly if signaled. may be transplanted to HLA matched recipients. |
|
|
Term
|
Definition
| AKA rubriblast, first morphologically recognized cell in red cell series (erythroid) |
|
|
Term
|
Definition
| EPO cytokine prodiced in peritubular interstitial kidney cells in response to tissue hypoxia, signaled by HIF-1a binding to HIF-1B which complex to bind EPO promoter |
|
|
Term
|
Definition
| granulocyte colony stimulating factor is made in monocytes, endothelial cells, fibroblasts, PMNs in response ti IL1, TNF, IFNg, LPS, and other CSFs. induces prolif of granulocytes and mobilization of stem cells into peripheral circulation. makes PMNs use oxidative metabolism, increases cytotoxicity. |
|
|
Term
| aminolevulinic acid synthetase |
|
Definition
| first step in heme synth requires B6 |
|
|
Term
| mitochondrial involvement in heme synth |
|
Definition
| 1st step and last 3 steps are in mitochondrion |
|
|
Term
| localization of heme synthesis |
|
Definition
| 85% in marrow, 15% in liver (mainly CYP450 heme, also for catalase, mito enzymes, and other heme enzymes) |
|
|
Term
| cytoplasmic steps of heme synth |
|
Definition
| steps 2-5 are in cytoplasm (the middle 4) |
|
|
Term
|
Definition
| incorporates iron into porphyrin to make heme |
|
|
Term
|
Definition
| has 2 iron binding sites for Fe+3, lowering of pH dissociates the two to make Fe2+ for use in mitochondria (heme synth) and ferritin (storage). Induced by low serum Fe, which allows IRP-I to bind the stabilizing IRE on its mRNA |
|
|
Term
|
Definition
| D-ALA synthetase has 2 isoforms, S1 and S2, which are in liver and marrow respectively. S1 is regulated by negative feedback from Heme, S2 is regulated by iron availability. |
|
|
Term
| Congenital Erythropoietic Porphyria |
|
Definition
| defect in heme pathway, marked deficiency of uroporphyrinogen III cosynthase activity. Tx: avoid sun, marrow suppression, marrow transplant, gene therapy |
|
|
Term
| acute intermittent porphyria |
|
Definition
| 50% suppression of porphyrin bilinogen deaminase, manifested by drugs that upregulate ALA synthetase S1, accumulating intermediates in porphyrin synth (ALA and porphyrobilinogen). Tx is hematin, to stimulate negative feedback. |
|
|
Term
|
Definition
| about 5 million/ul, higher in males than females |
|
|
Term
|
Definition
| partial pressure of O2 at which half of a globin is saturated. Much lower for myoglobin than hemoglobin |
|
|
Term
|
Definition
| measure of cooperativity. Slope of 1 is non-cooperating system, slope greater is positive cooperativity, lower is negative cooperativity derived on hill plot. |
|
|
Term
| location of heme in hemoglobin |
|
Definition
| in hydrophobic crevice to prevent water from oxidizing the iron |
|
|
Term
|
Definition
| A: 92%, A2 (a2d2) about 2.5%, A1C (a2B2) has glucose attached, from 3-5%, and F (fetal) a2g2 <1% in adult. |
|
|
Term
| abnormal hemoglobin types |
|
Definition
| S (sickle), J (unstable), H (alpha thalassemia) |
|
|
Term
|
Definition
| level indicates level of blood glucose over several months prior, added via non-enzymatic glycosylation |
|
|
Term
| amino acids associated with heme |
|
Definition
| distal and proximal histidine bind heme |
|
|
Term
| conformational change of heme during oxygenation |
|
Definition
| adding oxygen moves iron from histidine F8 into the plane of heme, facilitating the cooperative binding |
|
|
Term
|
Definition
| physical binding of protons to Hb facilitates release of O2 at tissues. Formation of CO2 in tissues acidifies them, lowering Hb O2 affinity, releasing O2 in tissues. |
|
|
Term
| effect of DPG/BPG in RBCs |
|
Definition
| stabilizes deoxy form, binding through electrostatic interactions to groups in beta chains |
|
|
Term
|
Definition
| CO2 binds more to deoxy than oxy Hb, more to B chains than a chains to form carbamino group, transporting 10-15% of CO2 this way. |
|
|
Term
|
Definition
| 5 aa deletion near heme binding site, resulting in unstable Hb |
|
|
Term
|
Definition
| Chain termination mutation that makes alpha chain longer, about 172 AA, causing alpha thalassemia |
|
|
Term
|
Definition
| a frame shift mutation, elongating it and messing w/ carboxy terminus interactions |
|
|
Term
|
Definition
| Beta chain is controlled by alpha chain promoter rather than beta promoter due to translocation, causing beta thalassemia |
|
|
Term
|
Definition
| sequence duplication within alpha Hb gene |
|
|
Term
| location of sickling RBCs |
|
Definition
| deoxygenation triggers sickling, so this happens in peripheral tissues causing painful crises. some is reversed in lungs |
|
|
Term
|
Definition
| alanine instead of valine in HbS, prevents sickling |
|
|
Term
|
Definition
| benign hemoglobinopathy, autosomal recessive, causes mild hemolytic anemia. Change of Glu6 to Lys6 in B chain, decreasing solubility of Hb and may crystallize. increases resistance to malaria |
|
|
Term
|
Definition
| prevalent among southeast asians, Glu26-Lys26 in beta chain, heterozygous state is asymptomatic. homozygous may cause microcytic anemia. |
|
|
Term
|
Definition
| FG5 val changed to met, mild problem as it breaks several heme contacts with aas |
|
|
Term
|
Definition
| CD1 Phe changed to Ser, severe, close proximity to heme |
|
|
Term
|
Definition
| G6PD def, unstable Hbopathy, or alpha thal. causes bite-like deformity in RBCs as they pass through spleen, and also precipitated Hb inclusions in RBCs |
|
|
Term
| Oxidation state of iroon in Hb determines what |
|
Definition
|
|
Term
|
Definition
| derivative of Hb in which iron is oxidized to Fe3+, no longer capable of reversible binding O2 and is ineffective carrier of O2. usually 1% of total Hb, reduced by Cyt. b5 reductase |
|
|
Term
|
Definition
| distal His converted to Tyr, stabilizes MetHbM, causes cyanosis |
|
|
Term
|
Definition
| high affinity mutation, where Tyr-->Cys near carboxy terminus with normal bohr effect |
|
|
Term
|
Definition
| His-->Asp, defuses electrostatic interactions, decreases bohr effect and increased O2 affinity |
|
|
Term
|
Definition
| Asp-->threonine, low O2 affinity, p50=70mmHg |
|
|
Term
|
Definition
| AA substitution with p50=85-90 mmHg |
|
|
Term
|
Definition
| fuels Na/K pump, pumps out Ca |
|
|
Term
|
Definition
| higher intracellular Ca, lower K, dehydrated |
|
|
Term
|
Definition
| increased intracellular Ca in sickled RBCs activates K channel in RBC resulting in K efflux |
|
|
Term
|
Definition
| reduces MetHb to Hb with cytochrome B5 reductase |
|
|
Term
| pyruvate kinase deficiency |
|
Definition
| can lead to hemolytic anemia, second most common abnormality in glycolysis. patients have 5-25% normal PK activity, decreasing formation of ATP in RBCs which depend on glycolysis, causing them to become rigid and lyse. On smear, you'll see extravascular hemolysis with only a few strange cells, mostly normal looking. |
|
|
Term
| pentose phosphate shunt in RBC |
|
Definition
| produces NADPH to reduce GSH to keep cell reduced and flexible |
|
|
Term
|
Definition
| no clinical signs until oxidant drug (chloroquine for malaria) provokes hemolytic anemia due to reduction in NADPH and GSH. Paroxysmal anemia may occur. |
|
|
Term
|
Definition
| aminophospholipid translocase prevents flip-flop of PE and PS from inner to outer leaflet of the bilayer. ATP dependent, less functional in SC, so some PS stays on external of RBCs leading to coagulation and stroke |
|
|
Term
|
Definition
| actin, ankyrin, spectrin, protein 4.1 |
|
|
Term
|
Definition
| maintains shape and flexibility of RBC. defects lead to Hereditary spherocytosis, elliptocytosis, or acanthocytosis |
|
|
Term
|
Definition
| reduced spectrin content in RBCs--> spherocytic, mild anemia |
|
|
Term
| hereditary elliptocytosis |
|
Definition
| autosomal dominant, spectrin fails to tetramerize--> elliptocytic mild anemia |
|
|
Term
|
Definition
| autosomal recessive, increased cholesterol and sphingomyelin --> RBCs rounded with thorny projections, occurs in liver dz esp. w/ chronic EtOH |
|
|
Term
|
Definition
| chronic hemolytic anemia, vas-occlusive crises, frequent infs, leukocytosis, pulm. HTN, asthma or reactive airway dz |
|
|
Term
|
Definition
| supportive care: analgesics for fever, correcting acidosis and fluids, hydroxy urea for increased HbF, delaying polymerization |
|
|
Term
|
Definition
| stores Fe2+ in cells, induced by high serum Fe binding IRP-I, which in turn doesn't bind the IRE that would block the ferritin 5' promoter |
|
|
Term
|
Definition
| Iron response element: sequence of RNA hairpins that can be bound by IRP-I if IRP-I doesn't have Fe attached |
|
|
Term
|
Definition
| Iron response protein; binds Fe if high in serum, binds IRE if low serum Fe, which stabilizes transferrin and blocks ferritin |
|
|
Term
|
Definition
| 25AA peptide hormone produced by liver in response to HAMP (HJV+BMP) and also IL-6. reduces amount of serum iron by internalizing ferroportin, causing macrophages to accumulate Fe |
|
|
Term
|
Definition
| brings Fe2+ into cells from jejunum. Symporter w/ H+, also aided by vit. C |
|
|
Term
|
Definition
| allows Fe2+ to enter portal circulation and to exit macrophages. Internalized by hepcidin. only transports Fe2+ form. |
|
|
Term
| Ceruloplasmin and Haphaestin |
|
Definition
| iron oxidases, convert Fe2+ to Fe3+ so it can be carried by transferrin. Ceruloplasmin is Cu dependent (therefore Cu deficiency can cause Fe deficiency) |
|
|
Term
|
Definition
| binds transferrin for endocytosis |
|
|
Term
|
Definition
| brings Fe2+ into mitochondrion from acidified lysosome |
|
|
Term
|
Definition
| Mean corpuscular volume: Hct/RBC (Micro/macrocytic) nl=80-100fL |
|
|
Term
|
Definition
| Mean corpuscular Hb: Hb/RBC (hyper/hypo chromicity) nl=28-33pg |
|
|
Term
|
Definition
| Mean corpuscular Hb concentration: Hb/Hct. nl=31-35% |
|
|
Term
|
Definition
| Red cell Distribution Width: the range of sizes of RBCs. nl=14 |
|
|
Term
|
Definition
| (Hb g/dL)/(normal Hb g/dL) x Retic Count. nl Hb is 15, so if pt's Hb is 5, corrected retic % will be 1/3 the uncorrected value, indicating defect in production |
|
|
Term
|
Definition
| lactic dehydrogenase is an intracellular RBC ptn. serum levels indicate RBC breakdown |
|
|
Term
|
Definition
| measurable via bili to gauge RBC breakdown |
|
|
Term
|
Definition
|
|
Term
|
Definition
| bilirubin diglucuronide, excretable |
|
|
Term
|
Definition
| unconjugated bilirubin, hi levels indicate RBC destruction |
|
|
Term
| hypoproliferative pancytopenic anemias: |
|
Definition
| aplastic anemia, myelophthisic anemia, myelodysplastic syndromes |
|
|
Term
| hypoproliferative anemias of RBCs only |
|
Definition
| Fe deficiency, thalassemia minor syndromes, anemias of chronic dz, plumbism/sideroblastic anemias, RBC aplasia |
|
|
Term
| anemias of chronic inflammation |
|
Definition
| chronic infs, rheumatoid dz, burns, malignant dz |
|
|
Term
| 4 major features of anemia of chronic dz |
|
Definition
| increased macrophage + splenic fn.--> shortened RBC survival, decreased erythropoiesis, blunted EPO response, inhibition of marrow erythropoiesis w/ IL-1, TNF-a, IFNg |
|
|
Term
|
Definition
| produced by white cells, binds iron avidly, delivers to MPs instead of marrow. this is one reason inflammation causes anemia. |
|
|
Term
| effect of IFN-g on erythropoiesis |
|
Definition
| Reduces number of erythroid CFUs in marrow, slowing production |
|
|
Term
| effect of TNFa on erythropoeisis |
|
Definition
|
|
Term
|
Definition
| distinguishes btwn ACD and IDA. Hi in ACD, low in IDA |
|
|
Term
| Serum transferrin receptor test (TFR) |
|
Definition
| distinguishes btwn ACD and IDA. low in ACD, Hi in IDA. |
|
|
Term
|
Definition
| kidney failure reduces EPO production, reducing RBC production. may be treated w/ exogenous EPO. becomes evident when half or more of renal function is lost. |
|
|
Term
|
Definition
| reduced response to EPO, increased lipid in RBC membrane--> target cells --> spur cells from increased surface area/volume ratio |
|
|
Term
|
Definition
| caused by neoplasms infiltrating bone, infections, drug side fx, ACD, and reduced EPO pdxn and response |
|
|
Term
| leuko-erythroblastic blood smear |
|
Definition
| tells you that you have a foreign presence in the marrow, preventing normal release of mature cells from marrow. You see RBCs and other blood cells in all stages of maturation in peripheral blood |
|
|
Term
|
Definition
| mild anemia, mild microcytosis, basophilic stippling, target cells. AKA Plumbism. shortens RBC life, inhibits protoporphyrin metabolism at several steps. Makes ringed sideroblasts in marrow |
|
|
Term
|
Definition
| causes giant pronormoblasts in peripheral blood smear |
|
|
Term
|
Definition
| mostly due to increased serum volume, i.e. dilution |
|
|
Term
|
Definition
| cobalamin, present in liver, porphyrin ring w/ Cobalt ion in middle. methyl B12 is cofactor for conversion of homocysteine to methionine w/ mTHF. Stored in reserves far greater than needed. |
|
|
Term
|
Definition
| carbon carrier for nucleotide synthesis |
|
|
Term
|
Definition
| binds B12 in saliva and gastric juices, protects it until it can be bound by intrinsic factor in duodenum |
|
|
Term
|
Definition
| binds B12 in duodenum in alkaline environment, uptaken w/ receptor in ileum |
|
|
Term
| Clinical issues of B12 and folate deficiency |
|
Definition
| pancytopenia 2' to megaloblastosis, GI mucosal megaloblastosis + cell death, 1' gastric atrophy in pern. anemia, infertility, cardiopulmonary issues, neuropsychiatric issues in B12 def, neural tube defects in folate def. |
|
|
Term
| megaloblastic hematopoiesis |
|
Definition
| pancytopenia, decreased retic, increased MCV and RDW, hyperplastic marrow, ineffective hematopoiesis, increased indirect billi + LDH, poikilocytosis, anisocytosis |
|
|
Term
| hypersegmented neutrophils |
|
Definition
| indicate megaloblastic process |
|
|
Term
| Homocysteine and Methyl malonic acid levels |
|
Definition
| both increased: B12 deficiency. Hcys increased only: folate deficiency most likely. normal MMA and Hcys: both defiencies can be excluded |
|
|
Term
| Most common cause of B12 deficiency |
|
Definition
| absorbtion issues in ileum or intrinsic factor issue. NOT dietary lack |
|
|
Term
|
Definition
| acquired intrinsic factor deficiency--> B12 def. 2' to autoantibody to gastric H/K atpase in 2-3% of population. 90% Abs to parietal cells, 60-70% Abs to intrinsic factor, elevated gastrin |
|
|
Term
| causes of folate deficiency |
|
Definition
| alcoholism or nutritional deficiency are most common. Also pregnancy, severe hemolysis, dialysis, GI malabsorbtion, drug side fx |
|
|
Term
|
Definition
| happens in the splenic macrophages (90%) |
|
|
Term
|
Definition
| any destruction of RBCs happening outside splenic MPs |
|
|
Term
|
Definition
| porphyrin loses globin, Fe, and CO to become biliverdin. Biliverdin becomes bilirubin, gets glucuronidated, becomes urobilinogen, stercobilinogen, and bilirubinogen in stool |
|
|
Term
|
Definition
| converts bilirubin in liver to diglucuronyl bilirubin, has very narrow range of activity (saturatable) |
|
|
Term
|
Definition
| undergoes hepatic circulation, excreted thru urine |
|
|
Term
|
Definition
| modulates 2,3 BPG, maintaining o2 saturation range |
|
|
Term
| Function of glycolytic cycle in RBC |
|
Definition
| maintains ion gradients and biconcave shape |
|
|
Term
|
Definition
| reduces MetHb to Hb (+3 to +2) |
|
|
Term
|
Definition
| decrease in key enzymes: glycolytic enzymes, HMP shunt, catalase, ATPase, cholinesterase, etc. Decreased membrane flexibility, decreased size, loss of lipids, decreased SA/V ratio, loss of sialic acid, Ig accumulation |
|
|
Term
|
Definition
| picks up a,B dimers of hemoglobin that has leaked into plasma from intravascular hemolysis, goes to liver for routine catabolism as if from spleen MPs |
|
|
Term
|
Definition
| if heme and globin separate in intravascular hemolysis, the heme will be picked up by hemopexin and carried to the liver for catabolism |
|
|
Term
|
Definition
| if haptoglobin and hemopexin are saturated with products of intravascular hemolysis, then free a,B dimers of hemoglobin may leak through the glomeruli and into the urine. |
|
|
Term
|
Definition
| Fe2+ dimers are pink, Fe3+ metheme metabolites are brown, and hemosiderin in urine may be spun down and stained w/ prussian blue |
|
|
Term
|
Definition
| either hereditary spherocytosis or acquired autoimmune hemolytic anemia |
|
|
Term
|
Definition
| target cell, seen in thalassemia, liver dz, hemglobin disorder |
|
|
Term
|
Definition
|
|
Term
|
Definition
| nuclear remnants seen in RBCs of anyone without a functional spleen, including w/ SC anemia |
|
|
Term
|
Definition
| you'll see clumping on smear, more severe |
|
|
Term
|
Definition
| no clumping, less severe than IgG |
|
|
Term
|
Definition
| important virulence factor for clostridial septicemia |
|
|
Term
| things that mimic hemolytic anemia |
|
Definition
| injection of H20, splenomegaly, and thermal injury |
|
|
Term
| normal adult Hb composition |
|
Definition
| 3% a2d2, 95% a2B2, 2%a2f2 |
|
|
Term
|
Definition
| Thal+ is a genetic defect that still produces some globin, Thal0 does not, ThalS produces clinically Undetectable thalassemia (basically normal) |
|
|
Term
| cause of dz in thalassemias |
|
Definition
| leftover unbound a or B chains cause problems by attacking nuclei, membranes, oxidizing shit, precipitating. Ultimately a combo of hemolysis and inadequate production of Hb |
|
|
Term
|
Definition
| splenomegaly, liver dz, icterus, bone dz, anemia, altered RBC morphology |
|
|
Term
| Tx for severe thalassemias |
|
Definition
| Transfusions with Fe chelation or bone marrow transplantation |
|
|
Term
|
Definition
| uses radioactive chromium to measure life of RBCs and thus hemolysis |
|
|
Term
|
Definition
| uses radioactive iron, measures rate of absorbtion into bone to effectiveness of erythropoeisis |
|
|
Term
|
Definition
| Beta, gamma, and delta are each on chromosome 16. Alpha is duplicated on chromosome 11. |
|
|
Term
| substitution AA that causes SCA |
|
Definition
| Glutamic acid-> valine on the beta chain, which H bonds other Hb molecules |
|
|
Term
| things that exacerbate SCA |
|
Definition
| reduced pH, fever, increased 2,3 BPG, hypoxia, dehydration |
|
|
Term
|
Definition
| increases adhesion of RBCs to vasculature when exposed |
|
|
Term
| effect of hemolysis on NO metabolism |
|
Definition
| Arginase is released from RBCs, consuming precursor to NO, while free hemoglobin from hemolysis consumes NO |
|
|
Term
|
Definition
| usually 96% of Hb in body, depressed to 58% w/ SCA trait and absent with SCA or severe beta thal. 10-30% in B+ thal. |
|
|
Term
|
Definition
| usually 3% of Hb, elevated to 5% in B thal. |
|
|
Term
|
Definition
| usually <2% of Hb, elevated as much as 20% in B thal and up to 15% in SCA. 1-2% in hemoglobinopathy SC. |
|
|
Term
|
Definition
| a possible complication of SCA caused by increased pressure due to hematopoeisis and pressure inside the marrow cavity that forces fat out into circulation. starts w/ severe bone pain. |
|
|
Term
|
Definition
| inability to concentrate urine, seen in SCA |
|
|
Term
| renal consequences of SCA |
|
Definition
| hyposthenuria, proteinuria, acidification defect, polyuria, hematuria, renal failure, medullary carcinoma |
|
|
Term
|
Definition
| increases portion of HbF in SCA patients |
|
|
Term
|
Definition
| female anopheles mosquito is definitive host |
|
|
Term
| phases of plasmodium life cycle |
|
Definition
| sexual (sporogeny) occurs in female mosquitos, asexual (shizogeny) occurs in intermediate host (humans) |
|
|
Term
| phases of plasmodium life cycle in humans |
|
Definition
| exoerythrocytic stage occurs in liver cells, erythrocytic stage happens in RBCs. |
|
|
Term
|
Definition
| asexual form of plasmodium that infects human RBCs |
|
|
Term
|
Definition
| form of plasmodium that invades hepatocytes |
|
|
Term
|
Definition
| form of plasmodium that invades mosquito gut epithelial cells |
|
|
Term
|
Definition
| stage of plasmodium that asexually reproduces in RBCs |
|
|
Term
|
Definition
| form of plasmodium that sexually reproduces in mosquito |
|
|
Term
|
Definition
| dormant form of plasmodium that infects liver, immune to many anti-malarial drugs |
|
|
Term
| Plasmodium vivax and ovale main features |
|
Definition
| form rings in RBCs, trophozoites, shizonts, gametocytes, rarely cause serious illness. only infect retics. likely to cause recurrent inf. |
|
|
Term
|
Definition
| may attack any RBC, sticks to microvasculature to avoid spleen, most serious, gametocytes has banana shaped gametocytes. Never recurs. Drug resistant. |
|
|
Term
| Duffy blood group antigen |
|
Definition
| required for vivax to enter, absent in many people,esp. in africa |
|
|
Term
| clinical presentation of malaria |
|
Definition
| acute, paroxysmal fever, chills, rigors, profuse sweating, fatigue, sleep in cycles. Also, headache, lassitude, fatigue, abdominal discomfort, myalgias, malaise |
|
|
Term
| frequency of malarial paroxysms |
|
Definition
| every 2 days in vivax, ovale, and falciparum, every 3 days in malariae. irregular at first |
|
|
Term
| physical exam findings of malaria |
|
Definition
| fever, palpable spleen, anemia |
|
|
Term
| diagnosis of malaria w/ light microscopy |
|
Definition
| samples must be taken for 3 days. thick smear w/ lysed cells to screen, thin smear to identify type of malaria |
|
|
Term
|
Definition
| chloroquine (falciparum resistant) sulfadoxine-pyramethamine. NO MONOTHERAPY. 3 days therapy. Artemisinin based therapy most common now. |
|
|
Term
|
Definition
|
|
Term
|
Definition
| normal catalytic activity, fast moving on electrophoresis, most common in west africa |
|
|
Term
|
Definition
| unstable enzyme, decreased catalysis w/ age. t/2 = 13days. seen in africa, 10-15% african americans |
|
|
Term
|
Definition
| severe hemolysis, markedly reduced catalysis. Seen in mediterranean, mid east, india |
|
|
Term
| classification of G6PD def. |
|
Definition
| Class IV is non-defective, III is mild, II is severe, and I is HNSHA. |
|
|
Term
|
Definition
| 2 pyrimidine aglycones, divicine and isouramil, overwhelm diminished GSH generating capacity of G6P deficient cells. |
|
|
Term
|
Definition
| Hereditary nonspherocytic hemolytic anemia is a chronic, severe G6PD deficiency, mutations at G6P or NADP binding sites result in inactive and unstable variants |
|
|
Term
| DDx of acute intermittent hemolysis |
|
Definition
| G6PD def, unstable hemoglobinopathies, PNH, malaria |
|
|
Term
| sexual dimorphism of G6PD deficiency |
|
Definition
| it's X linked, so females may have variable expression of G6PD throughout their bodies. Males will either have the deficiency or not. |
|
|
Term
| how to distinguish G6PD def during hemolytic episode |
|
Definition
| compare to hexokinase levels, should be directly related |
|
|
Term
| screening test for unstable Hbopathy |
|
Definition
|
|
Term
| Definitive test for unstable Hbopathy |
|
Definition
|
|
Term
|
Definition
| hypoproliferative or hemolytic/loss? (check retic and bili). |
|
|
Term
| urine hemosiderin implications |
|
Definition
| indicates saturation of hemopexin and haptoglobin followed by kidney cells sloughed off into urine w/ hemosiderin granules, indicating INTRAVASCULAR hemolysis |
|
|
Term
| extrinsic hemolytic processes |
|
Definition
| immune, intravascular fragmentation (e.g. DIC, TTP, heart valve), infection, and plasma lipid abnormalities. 90% of the time, these are acquired |
|
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Term
| Intrinsic hemolytic processes |
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Definition
| 90% of the time hereditary, e.g. PNH, acquired cytoskeletal defects w/ myelodysplasia |
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Term
| anemia 2' to RBC precursors hemolysing in marrow would give what indirect bili, LDH, and retic? |
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Definition
| elevated bili, elevated LDH, low retic |
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Term
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Definition
| <80 fL, including Fe def, thal, sideroblastic, and Pb poisoning |
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Term
|
Definition
| mcv>100 fL, e.g. B12 def, Folate def, drugs, myelodysplasia |
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|
Term
| Hb alpha chain chromosome? |
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Definition
|
|
Term
| Hb beta, delta, gamma chain chromosome? |
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Definition
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