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16 Cards in this Set
- Front
- Back
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Sickle Cell Disease
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Point Mutation-glutamic acid to valine substitution in the 6th amino acid of the β globin gene.
HbSS Autosplenectomy Encapsulated bacteria infections Painful crisis Salmonella Osteomyelitis Aseptic Necrosis Parvo B-19 Aplastic Crisis Anemia Target Cells Howell-Jolly body Hb AS = Malaria resistant |
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β-Thalassemia Major
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Hypochromic Microcytic Anemia
Normal serum iron and normal serum ferritin Normal TIBC Peripheral smear = nucleated RBCs Electrophoresis = absence of β-globulin subunit of hemoglobin β-thalassemia major is due to homozygous β-thalassemia. Child (infant) Mediterranean decent Scleral icterus Splenomegaly and Hepatomegaly Lethargy and Pallor |
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β-Thalassemia Minor
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No significant hemolysis and the primary presentation is microcytic anemia.
β-thalassemia minor is due to heterozygous β-thalassemia. Microcytic anemia Normal serum iron and normal serum ferritin Normal TIBC Electrophoresis will show a partial expression of β-chains or β-globin subunit of hemoglobin. |
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Alpha-Thalassemia
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If a person is missing one α-chain gene, he is a silent carrier and has normal MCV and hematocrit. Adult.
Persons missing 2 α-chain genes, are microcytic and mildly anemic. Adult. Persons missing 3 α-chain genes, have Hemoglobin H disease (HbH). There is excess β-chain production and you will see mild hemolytic anemia. Adult. Persons missing all 4 (homozygous α-thalassemia) have “Hb Barts”. Fetal presentation. Hydrops Fetalis. Fetal congestive heart failure and anasarca=death. |
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Hurler’s Syndrome
“Gargoylism”
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Autosomal Recessive
Deficiency of: α-L-iduronidase Accumulation of: Heparan Sulfate, Dermatan Sulfate (both are GAGs) Corneal Clouding/night blindness Airway obstruction / large tongue Developmental Delay Hepatosplenomegaly Comm. hydrocephalus. Hearing loss Abn.skull, curvature of the spine, unstable neck, dislocated hips, joint stiffness, and short, broad hands w/ bent fingers. |
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Hunter Syndrome
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X-Linked Recessive
MPS Type II Deficiency of: Iduronate Sulfatase Accumulation of: Heparan Sulfate, Dermatan Sulfate. “Mild Hurler’s” Aggressive Behavior No corneal clouding Better outcome Similiar facial features |
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Hereditary Spherocytosis
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Autosomal Dominant- ch8
Defect of Ankyrin-R or Spectrin Extravascular hemolysis Anemia Splenomegaly Jaundice, increased bilirubin RBCs are round, no central pallor Osmotic fragility test- positive Coombs test – negative Hemoglobin/ Hematocrit ↓ with anemia Treatment- Splenectomy |
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Hemophilia
A
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Factor VIII deficiency or classic hemophilia.
X-Linked Recessive Hemarthroses Easy bleeding, bruising Prolonged PTT Normal PT Normal bleeding time Serum factor VIII is reduced Missing factor VIII prevents fibrin formation |
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Von Willebrand factor
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Is made by the vascular endothelium. It attaches to both collagen and platelet receptors.
Von Willebrand factor anchors platelets to exposed collagen in a damaged vessel. Deficiency of vWF causes platelet dysfunction during primary hemostasis. Platelet dysfunction can be assessed with bleeding time (it will increase). VWF is also the carrier for protein Factor VIII |
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Hemophilia B
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Hemophilia linked to the deficiency of Factor IX
AKA “Christmas Factor” . “Christmas disease”, AKA Hemophilia B. Factor IX activates factor VIII. X-Linked Recessive Hemarthroses Easy bleeding, bruising Prolonged PTT Normal PT Normal bleeding time Serum factor IX is reduced |
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Von Willebrand Disease
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Autosomal Dominant
Easy bleeding, bruising Prolonged PTT Normal PT Prolonged Bleeding Time Von Willebrand factor and Factor 8 are decreased vWB is factor8 carrier |
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Fabry’s Disease
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X-Linked Recessive (but still seen in females)
Decreased sweating (hypohidrosis). Corneal opacity and starburst pattern. Burning pain in extremities. Renal disease, cardiovascular disease. Peripheral neuropathy. Angiokeratomas -red/purple spotson skin Mutation of the galactosidase, alpha (GLA) gene. Xq22 Deficiency of alpha-galactosidase A (α-GAL). Accumulation of ceramide trihexoside (GL-3) within the blood vessels, tissues, and organs. |
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Krabbe Disease
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Autosomal Recessive
Deficiency of β- galactosidase or galactocerebrosidase Accumulation of Galactocerebroside Mutation on GALC gene “Globoid Bodies” or “Globoid Cells” “Optic Atrophy” Blind and/or Deaf Neuropathy, seizure Early Death (around 1 year old) Irritability, unexplained fever, limb stiffness, feeding difficulties, vomiting, and slowing of mental and motor development. |
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Gaucher Disease
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Autosomal Recessive
Ashkenazi Jews Deficient β-glucocerebrosidase Accumulation of glucocerebroside Gaucher Cells (“wrinkled tissue paper” macrophages) Erlenmeyer Flask Deformity on bones Aseptic Necrosis of Femur Bleeding, bruising, anemia Hepatosplenomegaly Bone Crises/ fractures Lytic lesions. |
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Niemann-Pick Disease
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Autosomal Recessive
Ashkenazi Jews Deficiency of Sphingomyelinase Accumulation of Sphingomyelin Foamy or Sea-blue histiocytes Cherry Red Spot on macula Progressive neurodegeneration Hepatosplenomegaly Feeding problems-emaciated look Loss of motor skills Early death (0-3 years old) |
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Tay-Sachs Disease
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Autosomal Recessive
Ashkenazic Jew Deficiency of Hexosaminidase A (HexA) Accumulation of GM2 ganglioside esp. in neurons in brain. Lysozymes with “onion skin” Cherry Red Spot on macula Developmental Delay Progressive neurodegeneration Blind child Death between age 2-6 years. |
