Thalassemia

Question 1

CF

Answer 1

-Severe anemia
-mongoloid/thalassaemic facies(read basis in notes)
-hepatosplenomegaly
other:recurrent inf,spontaneous fractures,hypersplenism,leg ulcer
transfused patients: secondary haemochromatosis,cirrhosis,arrythmia, cardiac failure

Question 2

general blood parameter

Answer 2

Hb:2-6 g/dl
Hct,MCV,MCH,MCHC: severely dec
WBC:inc
platelet:n/dec fr massive splenomegaly

Question 3

peripheral blood smear

Answer 3

severe microcytiv hypochromic anemia with anisopoikilocytosis
basophilic stripling
target cells
fragmented rbc
pencil cells
cells with cabot ring
numerous nucleated red cells

Question 4

BM

Answer 4

Normoblastic erythroid hyperplasia
predominance of intermediate n late normoblast
inc iron due to inc dietary absorption n haemolysis

Question 5

Hb electrophoresis

Answer 5

HBA: ABSENT
HBA2:N/INC
HBF:MARKED INC

Question 6

HIGH PERFORMANCE CHROMATOGRAPHY

Answer 6

INC HBF

Question 7

PRENATAL DIAGNOSIS

Answer 7

Molecular DNA analysis

Question 8

biochem

Answer 8

bilirubin:inc
serum haptoglobin: marked dec
serum iron status:iron,ferritin,transferrin inc
TIBC: DEC