Hematology Flashcards
What clotting factors are not only produced by the liver? (3)
1: tissue factor
2: vWf
3: factor 8
What is the likely diagnosis for newborn presenting with spontaneous brain bleed and umbilical cord bleeding?
Factor 13 deficiency
autosomal recessive
What is the most likely diagnosis for pt presenting with macrocytic anemia, hypersegmented neutrophils, and history of goat milk consumption?
Folate deficiency
goat milk deficient in folate
What is the most likely diagnosis for pt presenting with sclerosis (old bone without new bone formation) of bone on Xray?
Sickle Cell Disease(HbSS)
What is the most likely diagnosis for pt who has microcytic anemia that is not responsive to appropriate iron therapy?
Thalassemia
Mentzer index is MCV/RBC is less than 13
What diagnosis is associated with Heinz bodies (intracellular inclusions in many RBC on blood smear), bite/ blister cells?
G6PD deficiency
X-linked disorder
What is a possible complication of large hemangioma?
thrombocytopenia
Kasabach-merritt phenonmenon- consumptive coagulopathy
what is the treatment for acute chest syndrome (due to infection, infarction, atelectasis or fat embolism) in a sickle cell patient?
immediate transfusion
what is the most likely diagnosis for pt presenting with pallor, fatigue, jaundice, gallstones/ cholelithiasis, splenomegaly, icterus and dark urine?
Hereditary Spherocytosis
(due to abnormal structural proteins ankyrin and spectrin)
(autosomal dominant)
Spherocytes- small, hyperchromic, perfectly round cells without central pallor
What orthopedic disorder is most commonly associated with sickle cell disease?
Avascular necrosis of the femoral head
What is the most likely diagnosis in pt presenting with thrombocytopenia that progresses to neutropenia and macrocytic anemia and history of hyperpigmentation/ cafe-au-lait spots, dysmorphic facies, absent/ abnormal thumbs and short stature?
Fanconi anemia
(dx: hypocellular bone marrow with fatty infiltration)
(increased risk of developing acute myeloid leukemia)
what is the most likely diagnosis for pt presenting with bleeding with abnormally large platelets and normal platelet number?
Bernard-Soulier syndrome
due to deficiency of glycoprotein 1b
What clotting factors effect the PTT?
- factor 11
What clotting factors effect the PT (or INR)?
- Factor 7
what is the most likely diagnosis for pt presenting with spontaneous bruising, petechiae, and purpura in the setting of thrombocyotpenia with large platelets?
Idiopathic/ Immune thrombocytopenia
ITP
What infection can cause a pure red cell aplasia or worsening of anemia in a sickle cell patient?
Parvovirus B 19
what leading cause of osteomyelitis in sickle cell patients?
Salmonella
What is the most likely diagnosis for pt presenting with eczema, immunodeficiency, and microthrombocytopenia (decreased number and size of platelets)?
Wiskott-Aldrich syndrome
X-linked
What is the most likely diagnosis for pt presenting with deep abscesses due to S. aureus, eczema and neutrophil dysfunction?
Hyper-IgE (Job ) syndrome
What is the most likely diagnosis for pt presenting with thombocytopenia, microangiopathic hemolytic anemia, neuro deficits, renal failure and fever?
Thrombotic thombocytopenic purpura
What is the most likely diagnosis for pt presenting with mucocutaneous bleeding with normal platelet appearance and number, but poor aggregation to ADP/ epi/ collagen, and platelet aggregate to ristocetin?
Glanmann thrombasthenia
(platelet dysfunction due to inability to bind to fibrinogen to aggregate)
(due to mutation alphIIb-beta intefrin fibrinogen receptor)
What is the treatment for immune thrombocytopenia (ITP)?
bleeding: IVIG or anti Rh D immunogloblin
no bleeding: observation
What is the most likely diagnosis for infant (2-6 months old) who presents with macrocytic anemia, pallor, poor feeding, and reticulocytopenia, snub nose, wide set eyes, webbed neck, thumb anomaly and thick upper lip?
Diamond-blackfan syndrome
What is the most likely diagnosis for pt presenting with several episodes of neutropenia, sepsis from Clostridium septicum, aphthous ulcers, stomatitis, and lymphadenopathy?
Cyclic Neutropenia
A hemoglobin electrophoresis showing reduced Hg A, elevated HgA2, elevated HgF, normal MCHC (Hg/hct), and microcytosis is most likely ….
Beta thalassemia
if there is also HgS, then pt has HgS/beta thal
When does the physiologic nadir for hemoglobin occur?
After 2 months old
What is the most likely diagnosis for pt presenting with new onset hemolytic anemia (icterus, splenomegaly, reticulosytosis, hyperbilirubinemia, and increased LDH) after a viral illness?
Autoimmune hemolytic anemia
dx: direct Coombs test
What disorder is considered activated protein C resistance?
Factor 5 Leiden
activated protein C can not cleave factor 5
What is the most dangerous form of neutropenia?
Neutropenia due to Kostmann syndrome
prolonged neutropenia and no marrow reserves, insenstive to G-CSF
What characteristics make an persistently enlarged lymph node concerning? (4)
- fixed (matted to surrounding tissues)
- greater than 2 cm in size
- no response to antibiotics
- nontender, multiple
What is the most likely diagnosis associated with post-circumcision bleeding?
Hemophilia (A-8 or B-9)
What is a possible side effect of hydroxyurea?
Leukocyte and platelet suppression
what is the most likely diagnosis for pt presenting with recurrent pneumonia and skin infections mainly due to catalase positive bacteria and fungus (aspergillus)?
Chronic granulomatosis disease
(due to defect in phagocytic NADPH oxidase)
(dx: neutrophil function test- DHR)
What does the 1:1 mixing test for coagulation pathway tell you?
whether coagulation defect due to antibodies (no correction) versus deficiency (correction)
What is the most likely diagnosis for pt presenting with history of delayed separation of umbilical cord, bacterial infections (S. aureus and E.coli) without the production of pus and found to have marked neutrophilia (elevated WBC)/
Leukocyte adhesion deficiency type 1
autosomal recessive, impaired egress of WBCs to extravascular sites of inflammation
What is the most frequent cause of death in pts with sickle cell disease?
Acute chest syndrome
What is koilonychia?
spooning of the fingernails and/or toenails associated with iron deficiency anemia
What neoplastic disorder is associated with Fanconi anemia?
Acute myelogenous leukemia
AML
What is the recommendation regarding iron supplementation for breast fed infants?
start at 4 months with 1mg/kg elemental iron until iron rich foods introduced
What are a complications associated with sickle cell trait (electrophoresis HbAS)? (2)
1) renal papillary necrosis with gross hematuria
2) Hyposthenuria (inability to concentrate urine)
What is the treatment for priapism (prolonged, painful erection) that can occur in sickle cell patients?
aspiration of blood and irrigation with saline of the corpus cavernosum
(if IV hydration does not work)
A vegan diet is associated with what type of anemia?
Megaloblastic anemia from vitamin B12 deficiency
What is the most likely diagnosis for pt presenting with history of recurrent infections, greasy foul smelling stool, pancreatic insufficiency, bifid thumbs and neutropenia?
Shwachman-Diamond syndrome
due to mutation in SBDS gene
What is the pathophysiologic cause behind chronic benign neutropenia (ANC less than 500 for up to 2 years with bone marrow showing granulocytopenia with normal trilineage)?
autoantibodies to granulocytes
What are the vitamin K dependent clotting factors? (6)
1: prothrombin (F2)
2: factor 7
3: factor 9
4: factor 10
5: Protein C
6: protein S
What is a possible adverse effect of warfarin that can be mitigated by giving a pt Heparin for the 1st 24-48 hours of warfarin?
Warfarin necrosis (purpura fulminans)
due to protein C deficiency as it has shortest half life of vitamin K dependent clotting factors
What is the most common complication of sickle cell disease in children less than 2 years old?
dactylitis (painful, symmetrical swelling of hands and feet)
What is the treatment for thrombotic thrombocytopenic purpura (due to ADAMSTS13 antibodies)?
Plasmapheresis and corticosteroids
What is the most likely cause of a pt with WBCs that have bilobed nuclei and red (eosinophilic) granules on blood smear?
Parasitic infection
What is the most likely diagnosis for patient with macrocytosis, marked deficiency of red blood cell precursors, and otherwise normal cellular bone marrow?
Diamond-Blackfan syndrome
What is not an indication for blood transfusion in sickle cell patient?
anemia less than 7 (risk of iron overload if no symptoms)
What is the best treatment for idiopathic thrombocytopenia?
Rhogam (anti-Rh-D immunoglobulin)
can use IVIG
What is the mode of inheritance for G6PD deficiency?
X-linked recessive
At what age should dietary source of iron be started for breast fed or non-iron fortified formula fed infants?
by 4 months old
