Thalassemia

Question 1

What type of Disease is T ??

Answer 1

Autosomal recessive disorders

247 Z

Question 2

Cause of T ??

Answer 2

1. Reduction / Absent production of one or more of the globin chains

247 Z

Question 3

Alpha T type ??

Answer 3

1. 1 gene deletion = Silent carrier
2. 2 gene d = A-T trait
3. 3 gene d = HbH Disease
4. 4 gene d = Hb Bart Hydrops fetalis

248 Z

Question 4

Type of T ?

Answer 4

1. Alpha T
2. Beta T

248

Question 5

Beta T type ??

Answer 5

1. B T minor
2. B T intermedia
3. B T major / Cooleys anemia

248 Z

Question 6

Alpha T chain damage ??

Answer 6

no alpha = A0
Reduced alpha = A -

248

Question 6

Normal Hb chain distribution ??

Answer 6

2 alpha
2 beta

248 Z

Question 7

Beta T chain damage >?

Answer 7

no beta= B0
Reduced Beta = A -

Question 8

Alpha T manifestation ??

Answer 8

1. Reduced / No A chain
2. Excess B chain

248 Z

Question 9

Reduced/No A chain in A T ??

Answer 9

1. Hb A
2. Hb A 2
3. Hb F

248 Z

Question 10

Beta T manifestation ??

Answer 10

1. Reduced / No B Chain
2. Excess A chain

Question 10

Excess B Chain in BT ??

Answer 10

1. HbH - B4
2. Hb Bart- Gamma 4

248

Question 11

Reduced / No B chain in B T&raquo_space;???

Answer 11

1. Hb A - A2B2

248

Question 12

Excess A chain in A T ??

Answer 12

1. Hb A2
2. Hb F

Question 13

Clinical features of Silent carrier in AT ?

Answer 13

No anemia

248

Question 14

Clinical features of A T Traits ?

Answer 14

1. Mild anemia
2. Inc RBC count

248

Question 15

Clinical in HbH disease ??

Answer 15

Severe hemolytic anemia

248

Question 16

MCH (-) In T is called ??

Answer 16

Hypochromia

Question 16

B T major / Cooleys anemia manifestation ??

Answer 16

1. Mongoloid face - Expansion of the marrow in the malar bone
2. Hepatosplenomegaly

248-249

Question 16

B T minor clinical features ??

Answer 16

1. No anemia
2. No symtoms

248

Question 17

Other features of BT&raquo_space;?? Major ??

Answer 17

1. Severe anemia
2. Jaundice
3. Growth retardation
4. Organ dysfunction
5. Hblocck
6. Hemosiderosis
7. Chronic congestive heart failure

249

Question 18

MCV (-) IN T is called ??

Answer 18

Microcytosis

249

Question 18

RBC feature in PBF in T ??

Answer 18

1. Hypochromic
2. Microcytosis
3. Anisocytosis
4. Poikilocytosis
5. Target cells
6. Teardrop cells
7. Fragmented cells
8. Basophil stippling

249

Question 19

CBC result of T ??

Answer 19

1. Hb = (-) 2. RBC = (-) 3. MCV= (-) 4. MCH =(-) 5. Packed cell V /Hematorcrit =(-) | 249 Z

Question 20

WBC features in PBF In T ??

Answer 20

Mature & normal distribution | 249

Question 21

Platelets in PBF >>

Answer 21

Normal / + | 249

Question 22

Confirmatory test of T ??

Answer 22

1. HPLC 2. Hb Electrophoresis | 250 ## Footnote Zillur

Question 23

Iron profile in T ??

Answer 23

1. Serum iron = (=/+) 2. Serum ferritin = (=/+) 3. TIBC 4. Iron satutration All same | 250

Question 24

X ray findings in T ? | Guide 352

Answer 24

1. Inc diploic space 2. Hair on end apperance | 352

Question 25

Cause of hepatosplenomegaly in T ?? | 352

Answer 25

1. Haemochromatosis 2. Compensatory extra medullary hemopoiesis | 352

Question 26

Cause of anemia in T ??

Answer 26

1. Intra medullary red cell destruction 2. Dec lifespan of RBC 3. Sequestration in spleen 4. Folate deficiency 5. inc plasma V 6. Peripheral haemo dilution | 352

Question 27

When S/S of T appesr ??

Answer 27

6 month HbF replaced by HbA | 352

Question 28

Liver manifestation in T ??

Answer 28

1. Fe overload in kupffer cells as hemosiderosis 2. Hepatocytosis | 249 Z

Question 28

Cause of death in T ??

Answer 28

1. Severe anemia 2. Infection 3. CHF 4. Cirrhosis 5. DM | 352

Question 32

Prenatal diagnosis of T??

Answer 32

1. CVS=Chorionic villus sampling 2. Amniocentesis | 1. 250

Question 33

Prevention of T ??

Answer 33

1. Carrier screening 2. Counselimg 3. Prenatal Dx 4. Interruption of pregnancy 5. Public awarness | 252