Defect in one of a group of proteins (spectrin, ankyrin, band 3.1) that form the support skeleton of RBCs

Less membrane causes small and round RBCs with no central pallor (increased MCHC, increased RDW) leads to premature removal by spleen

Splenomegaly

aplastic crisis (B19 infection)

Howell-Jolly bodies present after splenectomy

Positive osmotic fragility test

Microvascular occlusions - pain crisis

Aplastic Crisis

presents 6 months after birth

autosplenectomy

Pneumonia

Salmonella osteomyelitis

Acute chest syndrome

Treatment with hydroxyurea and bone marrow transplantation

autosomal recessive

causes deficiency of GpIb, which is recept for vWF

Thrombocytopenia, increased megakaryocytes, increased bleeding time

giant platelet syndrome

Deficiency of GpIIb/IIIa, so no fibrinogen bridging can occur

Blood smear shows no platelet clumping

Increased bleeding time

Defect in platelet plug formation

Decreased platelet survival

anti-GpIIb/IIIa antibodies synthesized by spleen and destruction of IgG coated platelets in spleen

Increased megakaryocytes

NO splenomegaly

Splenectomy beneficial to patients and returns PC to normal

decreased PC, increased bleeding time

Acute onset: children after viral infection

Chronic: females, 20-40 yrs old

Deficiency of ADAMTS 13 which degrades vWF multimer normally

Widespread formation of hyaline thrombi in microcirculation

Decreased PC, increased BT

PT and PTT are normal

Schistocytes, Increased LDH

Neurologic and renal symptoms

fever

thrombocytopenia

microangiopathic hemolytic anemia

Onset in childhood after infectious gastroenertitis from E. coli strain O157:H7

Bloody diarrhea

Factor H. deficiency

Acute renal failure

thrombocytopenia

fever

microangiopathic hemolytic anemia

Deficiency in factor VIII

Increased PTT

Macrohemorrhage, hemathroses, easy bruising

X-linked recessive

Deficiency in factor IX

Increased PTT

Macrohemorrhage, hemarthroses, easy brusing

decreased ability to inactivate factors V and VIII

Increased risk of hemorrhagic skin necrosis following administration of warfarin

Decreased PC, Increased BT, Increased PT, Increased PTT

Schistocytes, increased fibrin split products (D-dimers), decreased finbrinogen, decreased factors V and VIII

petechiae and ecchymoses

HbC disease, Asplenia, Liver disease, Thalassemina

(HALT)

Bone marrow infiltration

myelophthisic anemia

Megaloblastic anemia 

B12 or folate deficiency

Develops within 1 hour of blood transfusion and presents with fever, chills, flank pain, and hemoglobinuria.

dx?

How is dx made?

Why does this occur?

tx?

Acute Hemolytic Transfusion Reaction

Positive direct Coombs Test, Plasma Free Hgb showing pink plasma with a Hgb concentration > 25 mg/dL, Hemoglobinuria, and repeat typing and cross-matching revealing a mismatch

ABO mismatching

Supportive

What is the most common Transfusion reaction?

What is the pathophys?

Febrile nonhemolytic reactions

Reaction to cytokines stored in the transfused blood products cause transient fevers, chills, and malaise

Pts treated (or recently treated) with heparin who develop unexplained thrombocytopenia or newly diagnosed thrombosis. 

dx?

What should you suspect in an alcoholic smoker who presents with a palpable cervicle lymph node?

What is the best initial test?

Squamous cell CA of the mucosa of the head and neck

Panendoscopy (triple endoscopy = esophagoscopy, bronchoscopy, laryngoscopy) to detect the primary tumor

Commonly seen in younger pts, with increased blasts on peripheral smear

dx?

Most common type of leukemia seen in western countries?

What population age is it seen in?

What do most cells look like?

Which cell is highly characteristic?

Diagnostic features

CLL

Elderly

Over-matured look because of the hypercondensed nuclear chromatin material

Smudge cells

Marked Leukocytosis with predominant lymphocytosis and smudge cells

Pt with a hx of CA or fever presents with back pain and neurologic symptoms, particularly loss of bowel or bladder function.

What should be suspected?

What is the first step in management?

What is the test of choice to confirm dx?

Compression of the thecal sac

Glucocorticoid tx should be started while awaiting test results

MRI

What is the Schilling test used for?

What is it exactly?

To differentiate dietary deficiency from pernicous anemia and malaabsorption causes of Vit B12 deficiency and megaloblastic anemia

Pt is given a dose of radiolabeled oral Vit. B12 and an IM imjection of unlabeled B12. The urinary excretion is then measured > 5% is healthy person (so most likely dietary deficiency). In 2nd step give B12 with Intrinsic factor to distinguish b/w Pernicious anemia and Malabsorption

60 yo pt presents with splenomegaly, plethoric face, pruritis that can be  "unbearable" after a HOT bath, HTN, and Gout

dx?

What causes the pruritis?

What is the tx?

Polycythemia Vera

histamine release from an increased number of ciruculating basophils

Phlebotomy to keep HCT < 45%

What is the most common manifestation of Multiple Myeloma?

What 3 complications will you see?

What 3 lab findings will you see?

Back Pain

1. Renal failure 2. hypercalcemia 3. hyperviscosity syndrome

1. anemia 2. increased ESR (> 100 often) 3. Bence Jones proteins in urine

Skeletal Survey (x-ray)

NOT bone scan

Pt > 40 yo with increased alk phos level, and characteristic x-ray findings like femoral bowing. Symptoms of bone and joint pain, skeletal deformities, and hearing loss are common.

dx?

What is the treatment for warm autoimmune hemolytic anemia?

What lab values will you see?

Prednisone

elevated total and indirect bilirubin, increased LDH, and low haptoglobin

Coombs test positive

Pt started on Warfarin develops skin necrosis secondary to thrombus formation within the first days of starting warfarin therapy.

What is the dx?

why does this happen?

Protein C deficiency

Because warfarin inhibits production of vit K dependent clotting factors II, VII, IX, and X BUT it also inhibits the blood's natural anticoagulants, proteins C and S. Protein C's half-life is only 9 hours, while factors II, IX, and X have a half life around 60 hours.

Alcohol

vitamin E

garlic

ginkgo bilboa

ginseng

St. John's wort

Several abx

IgM spike on electrophoresis and hyperviscosity

dx?

Most accurate test for Hairy Cell Leukemia?

Tx?

Tartrate resistant acid phosphatase or CD11c

Cladribine

Low Leukocyte alkaline phosphatase (LAP) with leukocytosis

dx?

decreased reticulocyte count in the presence of anemia

dx?

Presents as a young male smoker with digit infarctions, and angiography will show a corkscrew pattern of the vessels proximal to lesions

dx?

tx?

Buerger's dz  aka Thromboangiitis Obliterans (do not confuse with Berger's dz - IgA nephropathy)

Smoking cessation

Presents as triad of asthma, eosinophilia, and vasculitis. 

Unique feature is mononeuritis multiplex = damage to one or more peripheral nerves - it is a group of symptoms.

Pt presents with foot drop or wrist drop, sinusitis, and cutaneous nodules over their extensor surfaces. Look for positive P-ANCA  and eosinophilia

dx?

tx?

Churg-Strauss syndrome

Steroids

Myelofibrosis

Thalassemia

Thalassemia

Autosplenectomy 2ndary to sickle cell

Iron deficiency