142082
| Question | Answer |
| Hemoglobin F Hb F | alpha 2 gamma 2 |
| Hemoglobin A2 Hb A2 | alpha 2 delta 2 |
| Hemoglobin A1 Hb A1 | alpha 2 beta 2 |
| Hemoglobin H Hb H | beta 4 |
| Barts Hemoglobin | gamma 4 |
| Heinz bodies | precipitation of alpha chains in Beta thalassemia major, severe anemia & extramedullary hematopoiesis. |
| Beta Thalassemia | Hemoglobin A2 more than 3.5% is diagnostic. (Beta. Minor, Intermedia, Major) |
| alpha thalassemia alpha chain gene deletion | alpha trait- no sx alpha thal minor- mild or No anemia Hg H- unstable Hb, jaundice @birth Barts- hydrops fetalis |
| Sickle cell Dz 6th codon of beta globin on chr 11 valine for glutamic acid | SC > Sb0 > SC > Sb+ |
| RBC low, Hb low, Rdw high, low MCHC BM- cells with iron aggragates around nucleus, iron clusters in RBC | Sideroblatic anemia Impaired Heme synthesis Ringed sideroblasts pappenheimer bodies |
| increased hemolysis, jaundice, Spleen, pallor, reticulocytosis, normocytic anemia, increased MCHC, nuclear remnants in the cells Most cc of hemolytic anemia in northern europe?? | Spherocytosis defective ankyrin & spectrin autosomal dominant Howell jolly bodies Osmotic fragility test |
| Anemia, abnormal thumbs & radii, microcephaly, short stature, CALS, hyperpigmentation, renal defects | Fanconi Anemia |
| Hypophosphatemia due to phosphaturia renal glycosuria with normal bld glucose Aminoaciduria, Tubular proteinuria, proximal RTA | Fanconi Syndrome proximal renal tubular dysfunction |
| Macrocytic anemia, low retics, low wbc, low pltlets, Abnormal thumbs, Short stature, renal defects, hypogonadism, gluacoma, MR, cong.heart defect, dysmorphism(micrognathia, flat thenar) | Diamond Blackfan Anemia |
| Low platelets, normal RBC & WBC absent radius, normal thumbs, milk protein allergy | TAR syndrome |
| low WBC, exocrine pancreatic failure, Short stature, metaphyseal dysostosis | Schwachman Diamond Syndrome Autosomal Recessive Rx: G-CSF improves nuetropenia SCT is curative. |
| Oxidative injury causes Hemolysis? only in Boys. | G6PD deficiency, X-linked disorder Dx: measure G6PD activity Rx: Transfusion |
| Hemolysis, Pts stable and asymptomatic with Hb 5-6 (due to high 2, 3 DPG, oxy curve shifts to easily release o2) | Pyruvate Kinase deficiency auto Recessive. Dx: direct enzyme measurement Tx: Splenectomy increases Hb and retic count. |
| Early AM hematuria, low RBC, low pltlets, venous thrombosis, aplastic anemia, chest pain, abd.pain | Paroxysmal nocturnal hemoglobinuria complement mediated hemolysis by MAC Dx: flow cytometry, sucrose lysis, Ham's acidified serum test Rx: steroids, NO donors, transfusion, iron SCT is curative. |
| Anemia, jaundice, hemolysis, dark urine, spleen, increased retics, smear -microspheorcytes | Autoimmune Hemolytic Anemia (AIHA) UA- heme, coombs test, Rx: steroids, IVIG, plasmapheresis transfusion, splenectomy |
| Neutropenia Q monthly or Q wkly ANC< 200, Repeated fevers, aphtous ulcers, LAD, skin infections, pneumonias, perineal ulcers | Cyclic Neutropenia Autosomal Dominant Neutrophil elastase EL2 gene mutation Dx: CBC twice a week for 6 wks. Rx: G-CSF |
| Neupogen (Filgrastim) Neulasta (PEG-filgrastim) | G-CSF (colonystimulating factor 3) stimulstes bome marrow to produce granulocytes and stem cells which are eventually released into blood stream. |
| Neutrophils are chronically low. ANC < 200, BM shows cells in promyelocyte stage | Severe Congenital Neutropenia Kostmann's Neutropenia Rx: G-CSF SCT is curative |
| Children less than 3 yrs present with mild skin & mucosal membrane infections. also have low wbc and neutropenia | Benign neutropenia of childhood |
| Toddlers less than 3 yrs present with viral infection, sudden onselt anemia, normal MCV, self resolving | Transient Erythroblastopenia of childhood |
| Formula to calculate ANC from CBCD | (segs + bands) X WBC < 500 severe neutropenia 500-1000 moderate 1000-1500 mild |
| Recurrent skin infections, severe periodontitis, gingivitis, pneumonia, Elevated WBC count, delayed umbilical seperation, Omphalitis | Leukocyte adhesion defect LAD Defect CD18 locus on Chr21 Dx: Flow cytometry for CD18 SCT curative |
| Staph/Ecoli infections, invasive fungal infections, CBC shows elevated WBC with left shift | Chronic granulomatous disease X-linked / AR Dx: Dihydrorhodamine oxidation test NBT test Rx: Abx, bactrim proph, recombinant interferon gamma SCT is curative. |
| Oculocutaneous albinism, neutropenia, prolonged bleeding time, frequent infections | Chediak Higashi Syndrome Large granules in neutros and eosinos EBV infection can lead to death. |
| Recurrent infections, Eczema, skin cold abscess, Boils, allergies, elevated IgE | Hyper IgE syndrome Rx: Bactrim proph SCT is curative |
| Aquired TTP is due to autoantibodies to?? | ADAMSTS 13 |
| 2-5 yr old healthy pt suddenly presents post viral infection with skin & mucosal bleeding, CBC shows isolated low and large platelets, normal RBC and WBC | ITP |
| Platelet dysfunction, mild thrombocytopenia with large platelets. Prolonged bleeding time with significant mucocutaneous bleeding | Bernard Soulier Syndrome AR |
| Puertorican descent oculocutaneous albinism, moderate severe bleeding. | Hermansky Pudlak Syndrome AR |
| Huge hemangiomas, with localized DIC and platelet destruction, | Kasabach-merritt Syndrome |
| Hemophilia | Factor VIII def prolong PTT normal PT |
| Hemophilia Treament | mild: desmopressin mod: recombinant factor VIII severe: prothrombin complex concentrate & recombinant VIIA |
| Christmas Disease | Factor IX def Rx: give recombinant factor IX |
| Von Willebrand Dz type 1: less Vwbf type 2: vwbf doesn't work well type 3: no vwbf activity at all | type 1: desmopressin type 2: give factor VIII type 3: factor VIII + vwbf |
| Normal PT prolonged PTT But no h/o clinical bleeding | Factor X11 (12) def. hageman factor |
| normal PT normal PTT normal platelets but still bleeding...?? Bleeding from Umb.cord, ICH, delayed wound healing | factor XIII (13) def Dx: Eugloblin lysis test Rx: Give factor 13 concentrate/ FFP/ cryoprecipitate |
| prolonged PT, prolonged PTT Thrombocytopenia, hemolytic anemia low fibrinogen, elevated D-dimer Bleeding from everywhere | DIC Moderate thrombocytopenia give Pltlets Severe: FFp/Cryoprecipitate |
| Hemorrhagic dz in a newborn prolonged PT more than prolonged PTT | Vitamin K deficiency (dependent factors- 2,7,9,10, C & S) |
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