Term
| 3 Beta Thalassemia Clinical Syndromes ? |
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Definition
1. B Thal Major
2. B Thal Minor / Trait
3. B Thal Intermedia |
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Term
| Characteristics of Beta Thalassemia Major Syndrome ? |
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Definition
Usually immigrants from Mediterranea, Africa, southeast Asia
Presentes 6 to 9 months after birth
HbF remains elevated
HbA2 may be normal, low, or high
Prominent facial bones
Hepatosplenomegaly and Splenomegaly
Hemosiderosis and Hemochromatosis |
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Term
| Thallasemias are what type of anemia ? |
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Definition
| Hypochromic microcytic anemia |
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Term
| Characteristics of Beta Thalassemia Minor ? |
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Definition
Mild hypochromic microcytic anemia
Usually asymptomatic
Increase HbA2 with normal or increase HbF
Necessary to recognize Beta Thalassemia trait to avoid treating as iron deficiency anemia
Genetic counseling |
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Term
| Trt for Beta Thalassemias ? |
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Definition
Regular blood transfusions
Iron chelators to prevent iron overload and cardiac failure
Bone marrow Transp. may be curative for Beta Thalassemia Major |
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Term
| The four alpha globin genes are located on chromosome ? |
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Definition
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Term
| 4 variants of Alpha Thalassemia ? |
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Definition
Silent carrier - one alpha gene deleted
Alpha Thal Trait
HbH (Hemoglobin H disease)
(Hb Barts) Hydrops Fetalis - all 4 alpha genes deleted, incompatible with life |
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Term
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Definition
Rare, acquired, stem cell disorder associated with periodic hemolysis, due to mutations of X-linked gene PIGA (phosphatidylinositol glycan class A.
PIGA inhibits complement (absence of CD55, CD59, C8 binding protein) causes hemolysis |
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Term
| Leading cause of death in PNH ? |
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Definition
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Term
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Definition
Immunosuppression
Bone marrow transplant |
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Term
| What type of anemia can you get from mechanical damage to RBCs, like with valve prostheses ? |
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Definition
| Microangiopathic hemolytic anemia |
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Term
What anemias can you get from
A) Defective DNA synthesis ?
B) Defective heme synthesis ?
C)Defective globin synthesis ? |
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Definition
A) Megaloblastic anemia, b/c Vit B12 and folate are needed to make thymidine, one of the bases of DNA
B) Iron deficiency anemia
C) Thalassemias |
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Term
| Vitamin B12 gets absorbed where in body ? |
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Definition
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Term
| Decrease in intrinsic factor and then Vit B12 deficiency causes what anemia ? |
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Definition
Pernicious anemia (type of megaloblastic anemia)
Low serum B12
Normal folate
Increase homocysteine and methylmalonic acid |
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Term
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Definition
| Diagnose pts. with pernicious anemia if they cannot absorb oral dose of Vit B12 |
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Term
| Any neurological deficits in folate deficiency ? |
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Definition
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Term
| Most common cause of anemia worldwide ? |
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Definition
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Term
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Definition
| Peptide made in liver when liver iron stores are too high. It inhibits iron absorption in duodenum. |
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Term
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Definition
| Yes, so most iron in body is bound as ferritin |
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Term
| "Poikilocytosis" with "pencil cells" seen in what anemia ? |
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Definition
| Severe cases of iron deficiency anemia |
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Term
| Increase RDW and Increase TIBC, and decrease in other measures seen in what anemia ? |
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Definition
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Term
| Most common anemia in hospitalized pts. ? |
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Definition
| Anemia of chronic disease |
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Term
| Congenital form of aplastic anemia is called ? |
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Definition
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Term
| Aplastic anemia is actually a ? |
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Definition
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Term
| Bone marrow biopsy for aplastic anemia shows what ? |
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Definition
| Very hypocellular, mostly only fat cells seen |
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Term
| In what anemia do you see dacrocytes (tear drop cells) ? |
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Definition
Myelophthisic anemia
Also in myelofibrosis |
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Term
| What is polycythemia / erythrocytosis ? |
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Definition
Abnormally elevated RBC concentration and Hb levels
Can be relative or absolute
Absolute:
Primary - Ex is Polycythemia vera
Secondary -
a) Appropriately high EPO levels:
b) Inappropriately high EPO levels: tumors or cancer |
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Term
| Prolonged bleeding time indicates ? |
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Definition
| Platelet defect (reduced number / function) |
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Term
Thrombin time tests ?
Diff. from prothrombin time (PT) |
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Definition
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Term
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Definition
Decreased numbers of platelets
Causes prolonged bleeding time
A lot of causes |
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Term
| Trf for immune thrombocytopenia (ITP) ? |
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Definition
Immunosuppresion (steroids)
Splenectomy |
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Term
| Most common inherited bleeding disorder ? |
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Definition
Von Willebrand Disease
Mostly Autosomal Dominant
3 types:
Type 1 - Most cases. Mucosal bleeding like dental cavity bleeding
Type 2 - Mild bleeding
Type 3 - A lot of bleeding |
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Term
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Definition
Factor 8 deficiency
Most common hereditary disease with serious bleeding
X-linked recessive
Prolonged PTT
Trt: Recombinant Factor 8 infusions
But small percentage develop Factor 8 antibodies, and there is risk of trasmission of viral disease |
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Term
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Definition
Severe neutropenia
Most commonly drug induced
Empirical trt with broad spectrum antibiotics
In predictable neutropenia, such as following chemotherapy, drug regimes usually includes G-CSF |
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Term
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Definition
Increased leukocytes or WBCs in blood
Can be increased neutrophils, basophils, eosinophils, lymphocytes, or monocytes |
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Term
| Basophilic leukocytosis almost always indicates ? |
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Definition
| Myeloproliferative neoplasm (usually CML, chronic myeloid leukemia) |
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Term
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Definition
Peripheral blood during sepsis and acute infections ?
Are small blue smudges inside cells |
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Term
| 90 % of Non-Hodgkin Lymphomas are |
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Definition
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Term
| Most common site of Marginal Zone Lymphoma (Maltoma) ? |
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Definition
| Stomach, superimposed on H. Pylori gastritis |
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Term
Which neoplasm gives you these symptoms :
Painless rubbery enlargment of one or more lymph nodes
Pain in involved nodes after drinking alcohol
Cutaneous anergy (itching) |
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Definition
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Term
| 4 stages of Ann Arbor Clinical Staging is for ? |
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Definition
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Term
| Lacunar cells (type of Reed-Sternberg cells) are present in what lymphoma ? |
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Definition
| Nodular Sclerosis subtype of Hodgkin's Lymphoma |
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