Thalassemia and Henatoglobiniopathies

Question 1

how many working gene is in Hb H disease

Answer 1

1

Question 2

features of Hb H disease

Answer 2

microcytic, hypochromic anemia
poikilocytosis, target cell, Golf ball cells

Question 3

Can patient w Hb H live normally

Answer 3

yes, symptoms occur when trigger from such as infections, pregnancy, oxidative stress

Question 4

how many functional alpha gene is in Bart’s hydros fetalis

Answer 4

0

Question 5

clinical signs of bart’s hydros fetalis

Answer 5

hydrop fetalis: generalized edema, ascites, hepatosplenomegaly, cardiomegaly
severe hypochromic, microcytic anemia
many NRBCs in blood smear

Question 6

pathophysiology of beta thalassemia

Answer 6

excess alpha chain => precipitate at erythrocyte procure => differentiate mai tai

Question 7

beta thalassemia minor features

Answer 7

mild anemia

Question 8

beta thalassemia major features

Answer 8

severe anemia, transfusion dependent

Question 9

beta thalassemia silent carrier features

Answer 9

no symtoms

Question 10

blood smear finding in beta thalassemia minor

Answer 10

microcytic, hypochromic RBCs, mild anisopoikilocytosis
target cells, eliptocytes, basophilic stepping

Question 11

labs in beta thalassemia minor

Answer 11

high HbA

Question 12

Beta thalassemia major clinical presentation

Answer 12

homozygous
transfusion dependent, growth retardation, carniofacial deformities

Question 13

blood smear finding in beta thalassemia major

Answer 13

severe microcytic, hypochromic anemia, extreme poikilocytosis (target cells, teardrop cells, eliptocytes, basophilic stipping, nourmerous NRBC