HEMA LEC - Thalassemias Flashcards Preview

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Flashcards in HEMA LEC - Thalassemias Deck (46)
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1

group of inherited disorders causing genetic mutations that reduce or prevent synthesis of one or more globin chain

thalassemis

2

thalassemia is characterized by __ rbcs

microcytic/hypochromic

3

first described children with anemia

thomas cooley and pearl lee

4

nonspecific or general classif of thal
severe course of thalasemia
either no alpha or beta chain produced

homozygous

5

nonspecific or general classif of thal
milder anemia; carriers

heterozygous

6

defects that cause a decrease or absent production of particular globin [3]

point mutation
small insertions or deletions
large deletions

7

specific thal categories

alpha thalassemia
beta thalassemia

8

premature death of rbc precurosrs in BM

ineffective erythropoiesis

9

anemia in thalassemia is due to 2 main components

ineffective erythropoiesis
extravascular hemolysis in RES esp spleen

10

imperfect extravascular hemolysis produces __

nucRBCs and tear drop rbcs

11

mildest form of B thal

silent carrier state

12

heterozygous disorder resulting in mild hypochromic, microcytic, hemolytic anemia

B thalassemia minor

13

severity lies between major and minor

B thalassemia intermedia

14

homozygous disorder resulting in severe life long transfusion-dependent hemolytic anemia

B thalassemia major

15

thalassemias are Named according to the ?

chain with reduced or absent synthesis

16

Decreased or absent synthesis of one of the globin gene
chains not only leads to decreased but also ________


in imbalance in the alpha/beta chain ratio hb
production

17

third component that contributes to the severity of anemia that may also worsen the anemia

splenomegaly

18

how may splenomegaly worsen anemia

bec of 2 components:
1) increased sequestration
2) increased plasma volume caused by splenomegaly (dilutional)

19

____occurs, which also contributes for the splenomegaly,

Extramedullary erythropoiesis

20

Are various heterozygous (from one parent) β gene mutations that produce only small decrease in production of β globin chains.
•   Patients have nearly normal alpha/beta chain ratio and no hematologic abnormalities.
• Have normal levels of HbA2

Silent Carrier State for β-Thalassemia

21

Decreased rate of synthesis of one of the beta chains; other beta chain normal


β Thalassemia Minor (Trait)

22

• Caused by heterozygous (from one parent) mutations that affect β globin synthesis.

β Thalassemia Minor (Trait)

23

• β Chains production and thus Hb-A production is more reduced than the silent carrier Hb-A.

β Thalassemia Minor (Trait)

24

•       Have one normal β gene and one mutated β gene.

β Thalassemia Minor (Trait)

25

• Usually presents as mild, asymptomatic hemolytic anemia unless patient in under stress such as pregnancy, infection, or folic acid deficiency.

β Thalassemia Minor (Trait) or B thalassemia Intermedia

26

anemia usually hypochromic and microcytic w/ slight aniso and poik, including target cells and elliptocytes; may also see basophilic stippling

β Thalassemia Minor (Trait)

27

rarely see hepatomegaly or splenomegaly

β Thalassemia Minor (Trait)

28

have high Hb A2 levels (3.6-8.0%) and normal to slightly elevated HbF levels

β Thalassemia Minor (Trait)

29

B thalassemia that normally requires no treatment

β Thalassemia Minor (Trait)

30

confused with IDA

β Thalassemia Minor (Trait)

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