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Flashcards

Genetics, Anemia

Whitney Willbanks Nursing English 153 cards

Cards in this deck (153)

  1. 1Most of the body's iron is obtained fromRecycled iron content from aged red blood cells
  2. 2Which is most consistent with iron-deficiency anemialow MCV, low MCH
    (microcytic, microchromic)
  3. 3One of the earliest laboratory markers in evolving macrocytic or microcytic anemia isincrease in RBC distribution width (RDW)
  4. 4Iron-deficiency anemia following excessive perimenopausal bleeding. HCT of 25% with pt taking iron therapy. At 5 days of therapy, what change in laboratory parameters could be expected?Reticulocytosis
  5. 5Should healthy middle-aged men take iron supplements?No, use of iron supplements in absence of documented deficiency could lead to iron overload.
  6. 6To enhance absorption of of ferrous sulfate . . .Take on an empty stomach.
  7. 7Ferrous sulfate + ciprofloxacinContraindicated due to risk of inactive drug compound forming when both medications are taken together.
  8. 8How to test efficacy of iron therapy for pernicious anemia:hemoglobin measurement
  9. 9During pregnancy, which micronutrient should be increased to reduce risk of neural tube defects?Folic acid
  10. 10One risk factor for folate-deficiency anemia:chronic ingestion of overcooked foods.
  11. 11RBC indices in folate-deficiency anemia:Macrocytic, normochromic
  12. 12Usual cause of pernicious anemia:Lack of production of intrinsic factor by gastric mucosa.
  13. 13RBC indices in pernicious anemia:Macrocytic, normochromic.
  14. 14Possible physical exam finding in pernicious anemia:stocking-glove neuropathy
  15. 1547 y/o male w/ insomnia & chronic pharyngeal erythema HGB 15, Hct 45%, RBC 4.2, MCV 108, MCHC 33.2 These values indicate:Pernicious anemia
  16. 16HgbAmount of hemoglobin in blood
  17. 17Hgb & Hct are low inanemia
  18. 18Hgb & Hct are high inpolycythemia
  19. 19HctPercent of intact RBCs in blood
  20. 20MCVmean corpuscular volume = average volume of a patient's RBCs
  21. 21Low MCV is termedMicrocytic
  22. 22High MCV is termedMacrocytic
  23. 23Normal MCV is termedNormocytic
  24. 24MCHCMean corpuscular hemoglobin concentration = Average concentration of Hgb per RBC
  25. 25Low MCHC is termedHypochromic
  26. 26High MCHC is termedhyperchromic
  27. 27Normal MCHC is termedNormochromic
  28. 28MCHMean corpuscular hemoglobin = amount of Hgb per RBC
    **amount changes for same reasons as MCV
  29. 29Red cell distribution width (RDW)Indicates heterogeneity (or lack thereof) of RBC size
  30. 30Low red cell distribution width indicatesUniformity of size = normal
  31. 31High red cell distribution width indicatesLarge variation in RBC size
  32. 32AnisocytosisVariation in RBC size
  33. 33PoikilocytosisVariation in RBC shape
  34. 34AnisopoikilocytosisVariation in size & shape of RBCs
  35. 35Reticulocyte countMeasure of immature RBCs
  36. 36Low reticulocyte count indicatesProblem with production of RBCs
  37. 37High reticulocyte countIncreased need for RBCs
  38. 38Plasma ironRequired for Hgb synthesis (specifically the heme component)
  39. 39Low plasma iron indicatesIncreased demand for in the body, lack of dietary intake, poor absorption
  40. 40High plasma iron indicatesIncreased absorption or excess intake
    **Sickle cell disease & Thalassemia can cause increased iron absorption & treatment for these diseases (transfusions) can also lead to iron excess
    **Liver disease can cause increased release of stored iron
  41. 41Total iron-binding capacity (TIBC)Amount of iron capable of binding to transferrin
    **indirectly measures transferrin availability
  42. 42Low TIBC indicatesExcess iron
    Low transferrin
  43. 43High TIBC indicatesiron deficiency
    High transferrin
  44. 44TransferrinTransports iron in circulatory system
  45. 45Transferrin saturationAmount of transferrin saturated with iron
  46. 46Low transferrin saturation occurs iniron deficiency
  47. 47High transferrin saturation occurs inIron excess (as in B-thalassemia major due to excess production & also multiple blood transfusions)
  48. 48FerritinStored iron
  49. 49Low ferritin indicatesIron deficiency
  50. 50High ferritin indicatesIron excess (as in B-thalassemia major & multiple blood transfusions)
    **Ferritin is an acute phase reactant, so levels may be high in illness/inflammation regardless of iron stores
  51. 51B12Required for RBC production
  52. 52Low B12B12 deficiency (macrocytic, normochromic)
    --deficiency may be due to poor intake, autoimmune disease that prevents intrinsic factor production, or failure of absorption of intrinsic factor+B12 complex
  53. 53High B12Liver disease, myeloproliferative disorders
  54. 54FolateRequired for RBC production (also factor in neural tube defects)
  55. 55Low folateFolate deficiency--usually poor dietary intake
  56. 56Low MCV (Microcytic) anemias/disordersIron deficiency, thalassemia, lead poisoning
  57. 57Normal MCV (normocytic) anemias/disordersAcute bleeding, aplastic, hemolytic, chronic disease, malignancy, low erythropoietin
  58. 58High MCV (Macrocytic) anemias/disordersPernicious anemia (B12 deficiency), folate deficiency
  59. 59Microcytic, hypochromic anemiaIron deficiency anemia, Thalassemia
  60. 60Macrocytic, normochromic anemiaPernicious anemia (B12 deficiency, folate deficiency)
  61. 61Anemia of chronic disease featuresNormocytic, normochromic
    decreased RBC production, decreased RBC survival time
  62. 62Aplastic anemia featuresNormocytic, normochromic
    Pancytopenia due to failure of bone marrow to produce multipotent hematopoietic stem cell precursors
  63. 63Sickle cell disease & Thalassemia are categorized as what type of anemia?Hereditary hemolytic anemias (acute blood loss) due to hemoglobin abnormalities
  64. 64Sickle cell disease creates RBCs that areNormocytic, normochromic
  65. 65Thalassemia produces RBCs that areMicrocytic, hypochromic
  66. 66Major thalassemia (Cooley anemia)more severe due to homozygous for abnormal allele
  67. 67Manifestations of B- thalassemia major (Cooley anemia)--symptoms appear at younger age (earlier than 2)
    --delayed growth & development
    --skeletal deformities
    --iron overload (leads to hepatomegaly, liver disorders)
    --splenomegaly due to RBC destruction
  68. 68Manifestations of Sickle Cell Disease--appear at 4-5 months of age
    --dactylitis is usually 1st sign
    --fatigue, irritability, pallor, jaundice
    --Pain crises: chest, low back, abdomen, & long bones
    --chronic pain: neuropathic, hyperalgesia, sensitization to pain, opioid hyperalgesia
  69. 69Myeloproliferative neoplasms (bone marrow makes too many of some type of cell) includepolycythemia vera, chronic myeloid leukemia, essential thrombocythemia, & primary myelofibrosis
  70. 70Which gene is implicated in all myeloproliferative disorders such as polycythemia vera and chronic myeloid leukemia?Mutated JAK2--controls cellular growth from hematopoietic stem cells
  71. 71Which gene is implicated in Sickle Cell Disease and B-Thalassemia?Mutated HBB gene (provides instructions for making B-globin chain)
  72. 72Autosomal recessive traits include:Sickle Cell Disease
    Thalassemia (sometimes dominant)
    Albinism, color blindness, cystic fibrosis, phenylketonuria, tay-sachs disease
  73. 73A-Thalassemia involves mutation of which gene?HBA1 or HBA2 (codes for a-globin chain of hemoglobin)
  74. 74Autosomal dominant traits include:Huntington, marfan, polycystic kidney disease, familial hypercholesterolemia, sometimes Thalassemia, neurofibromatosis
  75. 75Marfan Syndrome involves what type of tissue?connective tissue
  76. 76Marfan manifestationsCVD: aortic & mitral valve defects
    Ocular: Ectopia lentis (hallmark of disease)
    MSK: tall, arm span longer than height, arachnodactyly, sternum & spine defects, flat feet, acetabulum protrudes, hypotonia & hyperflexibility, facial features
  77. 77Marfan geneMutation of single gene (FBN1) on chromosome 15--leads to increased release of growth factors from microfibrils & decreased elasticity in tissues--causes overgrowth & instability of tissues
    FBN1 codes for fibrillin-1, which makes microfibrils
  78. 78Marfan treatment/precautionssurgical repair of deformities/defects, hormone therapy to prompt closure of long bones, meds to decrease blood pressure, bracing/physical therapy, avoid contact sports, frequent check-ups
  79. 79Neurofibromatosis involves what type of defect?neurogenic tumors arising from Schwann cells & similar cells
  80. 803 types of neurofibromatosis are:1) type 1
    2) type 2
    3) schwannomatosis
  81. 81Type 1 neurofibromatosis includes change in which gene?NFI gene on chromosome 17--codes for protein called neurofibromin (acts to suppress tumor development)
  82. 82Type 1 neurofibromatosis manifestations:SKIN
    cafe au lait spots, freckling, Lisch nodules (iris elevated w/ tan nodules), neurofibromas, cognitive impairment may be present
  83. 83Type 2 neurofibromatosis includes mutation in which gene?NF2 gene on chromosome 22 codes for protein called merlin (suppresses tumor development)
  84. 84Type 2 neurofibromatosis manifestations**usually appear around age 20, more severe if diagnosed earlier
    ACOUSTIC (8th crainal nerve)
    bilateral acoustic tumors (acoustic neuromas) cause hearing impairment & balance issues, intracranial & spinal meningiomas, NO COGNITIVE IMPAIRMENT
  85. 85Schwannomatosis manifestationsNOT SKIN OR ACOUSTIC
    multiple benign tumors along nerve sheath with no skin or vestibular involvement, nerve symptoms such as tingling/weakness, chronic pain, cognitive impairment may occur
  86. 86Schwannomatosis involves which geneSMARCB1 or LZTR1 on chromosome 22
  87. 87Neurofibromatosis manifestations (in general)learning disabilities, seizures, vision/skeletal/cardias issues
    **increased risk of developing other cancers
  88. 88Neurofibromatosis considerationsNo cure, need regular tumor surveillance (brain MRI), surgery to remove tumors for palliative reasons, pain management important
  89. 89Autosomal recessive disorders--characteristicsconsanguinity (relation by blood--inbreeding) common, usually early age of onset, commonly disorders of metabolism or enzyme deficiencies
  90. 90Phenylketonuria genemutation in PAH gene on chromosome 12 causes deficiency in phenylalanine hydroxylase & resulting toxic levels of phenylalanine in blood & CNS damage
    **phenylalanine hydroxylase converts phenylalanine to tyrosine
  91. 91Phenylketonuria manifestations (if untreated)severe intellectual disability, microcephaly, seizures, hyperactivity & behavioral problems/psych disorders, musty-smelling skin/hair/urine/sweat, lighter skin & hair (phenylalanine affects melanin production), eczema
  92. 92Phenylketonuria treatmentDiet low in phenylalanine (avoid proteins & aspartame, minimize starches), oral medications (sapropterin)
  93. 93Tay-Sachs genemutation of HEXA gene on chromosome 15 that codes for lysosomal enzyme (beta-hexosaminidase A)
    **beta-hexosaminidase A needed for metabolism of certain lipids (gangliosides), absence leads to accumulation of lipids in lysosomes of nerve cells & destroys nerve cells
  94. 94Tay-Sachs forms & affected populationAshkenazi Jews
    3 forms: infantile (most common), juvenile, adult (rare)
  95. 95Tay-Sachs manifestationsusually occur between 3 & 10 months
    exaggerated Moro reflex, apathy to loud sounds, inability to sit up/lift head/grasp objects/roll over, progressive vision loss, deafness/blindness, seizures, spasticity, paralysis, pneumonia
    **NO CURE, treatment supportive
  96. 96X-linked disorders inheritance--recessive or dominant (but dominant rare)
    --males more affected (only need 1 copy in recessive, females need 2 copies so more likely to become carriers, MALES CANNOT BE CARRIERS of recessive x-linked disease)
    --males have more severe presentation
  97. 97X-linked recessive disorders (examples)Duchenne muscular dystrophy
    hemophilia
  98. 98X-linked dominant disorderFragile X Syndrome
  99. 99Fragile X Syndrome inheritanceFMR1 gene normally repeated 5 to 40 times but repeated more than 200 times in disease--leads to silencing of FMR1 gene
    FMR1 codes for familiar mental retardation protein, which regulates production of other proteins & synapse development
  100. 100Fragile X Syndrome manifestations--2nd most common cause of intellectual disability (Down's is 1st)
    --more common & severe in males
    --Men CAN be carriers b/c of incomplete penetrance (having a premutation)
  101. 101Fragile X Syndrome gene mutation developmentFMR1 gene can change over several stages as passed through family:
    --gray area allele = 45-54 sequence repeats, which can be unstable & lead to premutation
    --55-200 sequence repeats = premutation, person said to be carrier
    -->200 sequence repeats = full mutation
  102. 102Fragile X Syndrome premutation manifestationsFemales may have menstrual irregularities, infertility, & premature ovarian failure
    Males may develop tremors & ataxia with aging
  103. 103Fragile X Syndrome manifestations--language, behavioral (hyperactivity, anxiety, inattentiveness), learning, & development delays seen by age 2
    --average of diagnosis: 36 months for males, 42 months for females
    --prominent jaw & forehead, long/narrow face, large ears, connective tissue abnormalities, large testes, autism
  104. 104Chromosomal abnormalities--basic data--often occur in utero due to maternal age, drugs, infection & many result in 1st trimester spontaneous abortion
    --abnormal # of chromosomes PAIRS: polyploidy (so will not have 23 pairs)
  105. 105Aneuploidy = nondisjunction during cell division causes too many or too few chromosomes (has to do with individual #s of chromosomes but will always have 23 pairs)Monosomy = only one copy of chromosome instead of 2
    --autosomal monosomy NOT compatible with life, autosomal trisomy can be
    --X-linked monosomy is compatible with life
    --extra copy within a pair (trisomy) may be present
  106. 106Examples of trisomiesAutosomal
    trisomy 21 = Down, trisomy 13 = Patau
    X-linked
    Klinefelter (XXY)
    **can also be too even more copies of X (XXXY or XXX)
  107. 107Autosomal Aneuploidy: Trisomy 21 (Down syndrome) gene alteration--3 copies of chromosome 21 most often due to non-disjunction of maternal egg
    --usually non-hereditary
  108. 108Down syndrome manifestationshypotonia, distinctive facial features (low nasal bridge, epicanthal folds, protruding tongue, low-set ears, small mouth), congenital heart defects, single crease on palm, white spots on iris, intellectual disability (worsens with age) behavioral issues, ocular defects, delayed puberty
  109. 109Down syndrome considerations/risksincreased risk for infections & leukemia, early death may occur due to heart/lung complications, increased risk of GI (reflux, intestinal obstruction, celiac) & thyroid issues (hypothyroidism), ~ 1/2 will develop Alzheimer's starting around age 50
  110. 110X-linked Aneuploidy: Turner syndrome (Monosomy X) gene alteration--deletion of part or all of X chromosome due to non-disjunction
    --all cells of offspring affected if inherited but usually NOT inherited
    --MOSAIC Turner syndrome = some cells have monosomy, others have 2 full copies of X chromosome
    --only affects females (males cannot survive with only y chromosome)
  111. 111Turner syndrome manifestations--no ovaries so will never menstruate
    --normal intelligence, short stature, lymphedema, broad chest & widely spaced nipples, low-set ears, small jaw, drooping eyelids, increased weight, webbed neck, small fingernails, coarctation of aorta, horseshoe kidney, ear infections, reduced bone mass
  112. 112Turner Syndrome treatmentadministration of female sex hormones to promote secondary sex characteristics & skeletal growth
    **often not identified until late childhood due to subtle symptoms but earlier treatment provides better outcomes
  113. 113Polysomy X: Klinefelter syndrome--one or more extra x chromosomes w/ at least 1 y chromosome, so all affected individuals are MALE
    --NOT inherited, occurs due to non-disjunction & is fairly common
    --usually discovered during puberty when testes fail to mature
    --causes infertility
  114. 114Klinefelter syndrome manifestations--small penis/prostate/testicles, sparse facial & body hair, gynecomastia, sexual dysfunction, long legs & short obese trunk, tall stature, learning disabilities & behavioral issues, delayed speech/language development, higher risk of pulmonary disease & varicose veins, higher risk of osteoporosis & breast cancer
  115. 115Klinefelter syndrome treatmentadministration of male sex hormones to promote secondary sex characteristics, mastectomy for gynecomastia or breast cancer, psychological counseling/support
  116. 116Chromosomal structural disorders (examples)Deletion, Duplication, Translocation, Inversion, Substitution, Fragile site
  117. 117Chromosomal deletion exampleDeletions = missing part of genetic material (chromosome 13 in multiple myeloma, chromosome 5 in cri du chat)
  118. 118Chromosomal duplication exampleDuplications = extra genetic material (Pallister Killian syndrome with duplication on chromosome 12)
  119. 119Chromosomal translocation exampleTranslocations = part of chromosome changes place with another (between chromosome 22 & 9 is Philadelphia chromosome--chronic myeloid leukemia)
  120. 120Chromosomal inversion exampleInversions = chromosome breaks off & re-attaches in different manner (hemophilia A)
  121. 121Polycythemia vera characteristics--Increased RBCs &, to lesser extent, thrombocytes & leukocytes
    --increased RBCs increases blood volume & viscosity, leading to distended blood vessels & sluggish blood flow
    --More common in men & most commonly diagnosed around age 60
  122. 122Polycythemia vera manifestations--visual disturbances (transient blindness), HTN, splenomegaly, gouty arthritis (increased uric acid production d/t high turnover of RBCs), pruritus after contact w/ water present in ~1/3 of patients & present up to 3 years prior to diagnosis, vasomotor & microvascular thrombotic changes: burning pain in hands/feet w/ erythema/pallor/cyanosis
  123. 123Polycythemia vera treatment--diagnosed incidentally when CBC indicates increased Hgb
    --low serum erythropoietin & JAK2 mutation diagnostic of
    --phlebotomy & aspirin
    --chemotherapy (hydroxyurea) is first line treatment
    --treatment NOT curative
  124. 124Hereditary hemochromatosis types (leads to excess iron)4 types:
    --type 1 most common & occurs in men aged 40-60
    --Type 2 in childhood (may manifest as delayed sexual maturation d/t alterations in sex hormones)
    --Type 3 has range of ages
    --Type 4 in postmenopausal women
  125. 125Pathway to damage in iron overload:Excess iron saturates all transferrin then binds to other proteins (albumin, for example). Non-transferrin-bound iron is taken up in organs & joints, then chemically transformed in manner that forms reactive oxygen species, inflammation, tissue damage, & fibrosis.
  126. 126Iron overload manifestationsOften only found once organ damage occurs:
    heart failure, hepatic fibrosis, diabetes, osteoporosis, hypothyroidism, & integumentary conditions (hyperpigmentation)
  127. 127Iron overload diagnosis/treatment--CBC may reveal different anemias
    --iron, ferritin, & transferrin saturation will be high, TIBC will be low
    --Hepatic enzymes may be altered
    --MRI of heart, liver may reveal iron depositions
    --Phlebotomy several times a week that leads to decreased ferritin level is diagnostic for
  128. 128Folate deficiency anemia results in what characteristics of RBCs?Macrocytic, normochromic
  129. 129Pernicious anemia is usually caused bylack of production of intrinsic factor by gastric mucosa
  130. 130Pernicious anemia results in what characteristics of RBCs?Macrocytic, normochromic
  131. 131Common physical examination finding in patient with pernicious anemiastocking-glove neuropathy
  132. 13222 y/o female of Asian ancestry presenting with Hgb 9.1, Hct 28%, RBC 5 million, MCV 68, MCHC 33.2, RDW 13%, Reticulocytes 1.5% --These are consistent with:Alpha Thalassemia minor
  133. 13368 y/o male w/ new onset huffing & puffing w/ exercise over past 3 weeks Hgb 7.6, Hct 20.5%, RBC 2.1 million, MCV 76, MCHC 28, RDW 18.4, Reticulocytes 1.8% --This is consistent with:Occult blood loss
  134. 13457 y/o female w/ rheumatoid arthritis on antirheumatic drugs but w/ poor disease control Hgb 10.5, Hct 33%, RBC 3.1, MCV 88, MCHC 32.8, RDW 12.2, Reticulocytes 0.8% --This is consistent withAnemia of chronic disease
  135. 13527 y/o female w/ menorrhagia Hgb 10.1, Hct 32%, RBC 2.9, MCV 72, MCHC 28.2, RDW 18.9 --Physical examination is likely to includeNo specific anemia-related findings
  136. 136Results of hemogram in person with anemia of chronic disease includereticulocytopenia
  137. 137When prescribing erythropoietin supplementation, the NP must consider thatit is advisable to recommend additional micronutrient supplementation
  138. 138In 68 y/o female with HTN taking thiazide diuretic & newly started on parenteral B12, the NP should carefully monitor forhypokalemia
  139. 139One condition unlikely to result in anemia of chronic disease:peripheral vascular disease
    **rheumatoid arthritis, chronic renal insufficiency, & osteomyelitis are more likely to result in anemia of chronic disease
  140. 140A healthy ratio of Hgb to Hct is1:3
  141. 141Increase in normal variation of RBC size is calledanisocytosis
  142. 142Erythropoietin is a glycoprotein that influences a stem cell to become ared blood cell
  143. 143Intervention in anemia of chronic disease most often includestreatment of the underlying cause
  144. 144Poikilocytosis refers to alteration in RBCshape
  145. 145Which is not consistent with anemia of chronic disease?Hct less than 24%
    **will have normal RDW, MCHC, & normal to slightly elevated serum ferritin
  146. 146In children younger than 6, accidental overdose of iron-containing products isA leading cause of fatal poisoning in the age group
  147. 147When counseling a patient about neurological alterations of vitamin B12 deficiency, the NP advises thatthe changes may be permanent if allowed to persist longer than 6 months
  148. 148Uncertain cause of macrocytic anemia most commonly leads to which additional testing?methylmalonic acid & homocysteine
  149. 149Anemia in children and school performanceanemia can lead to poor school performance
  150. 150folic acid requirements increase how much in pregnancy2 to 4 times
  151. 151RBC content is approximately how much Hgb90%
  152. 152Approximatley ___% of the body's erythropoietin is produced by the kidneys90%
  153. 153Reticulocytopenia is a normal response to anemia: T or FFALSE

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Nursing Flashcards on Genetics, Anemia, created by Whitney Willbanks on 05/02/2024.
Created by
Whitney Willbanks · Feb 2024
Updated
Feb 7, 2024
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