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Flashcards in FINALS: Thalassemia Deck (17)
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1

Group of inherited disorders causing decreased rate of synthesis of a structurally normal globin chain (quantitative defect); characterized by microcytic/hypochromic RBCs and target cells.

Thalassemia

2

Classified according to the ________ affected

globin chain

3

Characterised by having severe anemia; either no alpha or no beta chains produced.

Thalassemia major

4

Characterised by having mild anemia; sufficient alpha and beta chains produced to make normal hemoglobins A, A2 and F, but maybe in abnormal amounts.

Thalassemia minor/trait

5

Beta- thalassemia Major/homozygous aka

Cooley anemia

6

Markedly decreased rate of synthesis or absence of both beta chains results in an excess of alpha chains, no Hgb A can be produced; compensate with up to 90% Hgb F

Beta- Thelassemia Major/homozygous

7

In major/homozygous, sxcess alpha chains precipitate on the RBC membrane, form __________, and cause rigidity; destroyed in the bone marrow or removed by the spleen.

Heinz bodies

8

In major/homozygous beta- thalassemia, severe _______ anemia, target cells, teardrops, many nRBCs, basophilic stippling, Howell-Jolly bodies, Pappenheimer bodies, Heinz bodies; increased serum iron and increased bilirubin reflect the hemolysis.

microcytic/hypochromic

9

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

heterozygous

10

In minor Beta-thalassemia, mild _____ anemia, with a normal or slightly elevated RBC count; target cells, basophilic stippling.

microcytic/hypochromic

11

All four alpha genes are deleted; no normal hemoglobins are produced.

Major (hydrops fetalis) Alpha-Thalassemia

12

In Major (hydrops fetalis) Alpha-Thalassemia, ________ is produced; cannot carry oxygen; incompatible with life; die in utero or shortly after birth.

hemoglobin Bart’s (Y4)

13

Three alpha genes are deleted. Decrease in alpha chains leads to beta chain excess.

Hgb H disease

14

In Hgb H disease, ________, an unstable haemoglobin, is produced.

hemoglobin H (B4)

15

Two alpha genes are deleted. Patients are usually asymptomatic and discovered accidentally. Up to 6% Hgb Bart’s in newborns maybe helpful in diagnosis; absent by 3 months of age.

Minor/trait thalassemia

16

Mild _______ anemia often with a high RBC count and target cells happens in minor/trait thalassemia

microcytic/hypochromic

17

One alpha gene is deleted. Patients are asymptomatic and are often not diagnosed unless gene analysis is done

Silent Carrier