FINALS: Thalassemia

Question 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.

Answer 1

Thalassemia

Question 2

Classified according to the ________ affected

Answer 2

globin chain

Question 3

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

Answer 3

Thalassemia major

Question 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.

Answer 4

Thalassemia minor/trait

Question 5

Beta- thalassemia Major/homozygous aka

Answer 5

Cooley anemia

Question 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

Answer 6

Beta- Thelassemia Major/homozygous

Question 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.

Answer 7

Heinz bodies

Question 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.

Answer 8

microcytic/hypochromic

Question 9

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

Answer 9

heterozygous

Question 10

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

Answer 10

microcytic/hypochromic

Question 11

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

Answer 11

Major (hydrops fetalis) Alpha-Thalassemia

Question 12

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

Answer 12

hemoglobin Bart’s (Y4)

Question 13

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

Answer 13

Hgb H disease

Question 14

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

Answer 14

hemoglobin H (B4)

Question 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.

Answer 15

Minor/trait thalassemia

Question 16

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

Answer 16

microcytic/hypochromic

Question 17

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

Answer 17

Silent Carrier