Flashcards in Buzzwords For Heme/Lymph Final Deck (68)
Autosplenectomy is seen in almost all adults with this condition
Sickle Cell Disease
Excess Bleeding with circumcision tips you off to what genetic bleeding disorder? What pathologies could be seen?
Hemophilia A or B (VIII or IX)
You can also see excess bleeding from the cutting of the umbilical cord.
What inheritance is Hemophilia A or B
What is the most common anemia overall?
Iron Deficiency Anemia
What is the most common Hospital patients
Anemia of Chronic disease
Heme Synthesis enzymes inhibited in lead poisoning
ALAD and Ferrochetalase.
Pb displaces Zn in ALAD, causing a build up of ALA - > Neurological defects
Why would you want to get genetic testing for Alpha Thalassemia Trait (2 deletions)?
Because you want to determine if it Cis or Trans Thalassemia
Which Haptoglobin subtype is associated with autoimmunity and disruption of HDL
Hp2-2 binds ApoA which facilitates the loss of LCAT and decreases antioxidant activity. -> Marker for coronary artery disease
Sx seen in pts. with sickle cell trait
Microhematuria and decreased ability to concentrate urine.
What binds free heme in the blood?
Hemopexin. Used when Haptoglobin is overwhelmed. Hb -> metHb + heme. hemopexin takes the free heme off of albumin. Then hemopexin-heme bind to CD91 and into macrophages.
Location of GI absorption of anemia causing substances. (Iron, Folate, Vit B12)
Iron - Duodenum
Folate - Jejunum
Vit. B12 - Iliuem
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When Fe levels are sufficient, what liver protein inhibits ferroportin? (On enterocytes and macrophages)
Blocks Fe transport into the blood via ferroportin
Suppresses EPO production
What is the most sensitive and cost effective test for iron deficiency anemia?
Low Serum Iron
Low % Saturation
Deletion of 3 alpha globin genes leads to what disease
HbH disease - B tetramers, soluble so it will not precipitate in normoblasts but will in peripheral RBC resulting in hemolysis.
Infant with Sickle Cell presents with Hb x
Why are many patients with Iron defienct or Megaloblastic anemia relatively asymptonmatic despite low Hb?
They are asymptomatic due to a physiologic compensation when deficiecy of Fe, Folate, or B12 is over a long period of time.
Symptoms of Iron Deficiency Anemia
Koilonychia (Spooning of the fingernails)
Pica - Compulsion to eat/chew on non-food (dirt/ice)
Treat Pica with Ferritin Sulfate
How long does it take for Folate stores to be depleated?
Deficiency is caused by:
1) Poor Diet
2) Increase Demand
3) Drugs - Methotrexate -> inhibits dihydrofolate reductase preventing the reuse of folate
4) Jejunal resection
Why is folate supplementation crucial in pregnancy for patients with Folate deficiency?
Without you can get neural tub defects/Anencphaly associated with deficient folate
What helps you differentiate between Folate and VitB12 deifciency
Most common cause of Vitamin B12 deficiency?
Deficient vitamin B12 secondary to decreased intrinsic factor from gastric parietal cells; MUST have an autoAb against intrinsic factor for diagnosis.
How long does it take to develop a VitB12 Deficiency
Years. Due to the massive stores in the liver.
Treatment for Beta Thalassemia Major
Transfusions with Aggressive Iron Chelation
Major = Transfusion dependent (Hb is around 2-3g/dL)
Without Aggressive Iron Chelation you would get endocrine and cardiac disease
Vitamin B12 deficiency is associated with what poor diet and what parasite
Strict vegan* diet and Diphyllobothrium latum (fish tapeworm).
*Eggs and dairy both contain vit B12 so not vegetarians; also associated with ilieal resection (site of resorption)
What three thigs require VitB12 for production
1) Tetrahydrofolate - decrease -> Impaired DNA
What is the characteristic intracellular findings and morphology (respectively) associated with G6PD Deficiency?
Heinz Bodies and Bite Cells
Heinz Bodies are precipitated Hb globins that had ROS damage. These are removed by splenic macrophages resulting in "Bite Cells"
Increased homocysteine in Megaloblastic Anemia increases risk for what complication?
Venous and Arterial Thrombosis
What genes are most commonly mutated in a patient with hereditary spherocytosis?
Anikarin, spectrin, and Band 3
Treatment for Hereditary Spherocytosis will result in the presence of what on blood smear?
You need to get a SPLENECTOMY!
A Splenectomy will result in Howell-Jolly Bodies and acanthocytes.