Hemoglobinopathies

Question 1

Percentage of HgbA:

Answer 1

30% at birth and 79% by 6-12mon

Question 2

What are the complications of thalasemia major?

Answer 2

Hemosidrosis 
- heart: mycardial-siderosis  
- Liver: hepatosplenomegaly
- pancreas: bronze diabetes
- anterior pituitary: dealyed puberty + short stature 
Chronic anemia

Question 3

Why is there typical thalassemia fascial features

Answer 3

Frontal bossing, nasal brydge depression, maxillary prominance

(Due to the erythroid producing bone being hyperactive for erythropoesis)

Question 4

How to prevent hemosiderosis in thalassemia patients?

Answer 4

.by iron chelators

Question 5

What lis hypertransfusion given to patients with thalassemia major?

Answer 5

Regular transfusion every 4 weeks to maintain hgb as 12-13g

“Followed by iron chelator”

Question 6

Ineffective erythropoesis in thalassemia major is caused by::

Answer 6

Tissue hypoxia

Question 7

What is the management of thalassemia major?

Answer 7

• hyper transfusion
• deferoxamine
• curative is stem cell transplantation

Question 8

When patient can tolerate oral medications, what is the best chelator to be given to increase compliance

Answer 8

• defirpone

- deerisorx

Question 9

What is the definitive treatment of thalassemia major?

Answer 9

Stem cell

Question 10

Beta thalassemia intermedia percentage:
A1:
A2:
F:

Answer 10

A1: trace
A2: 2%
F: 70

Question 11

Where do we see target cell?

Answer 11

Beta thalassemia intermedia

Question 12

What is hemoglobin bart and hemoglobin H?

Answer 12

Hemoglobin bart: gamma globin attach to each other

Hemoglobin H: beta globin attach to each other

Question 13

The more F hgb in sickle cell indicates:

Answer 13

.

Question 14

Reticulocyte count and presentation in hemolytic crisis and aplastic crisis

Answer 14

.

Question 15

How to treat vso-occulsive crisis:

Answer 15

.

Question 16

Define anemia

Answer 16

Decrease RBC volume, hg concentration, or hematocrit

Question 17

What is the rate of hemoglobin change in pediatric

Answer 17

High after birth > Decrease > high at 7-12

Question 18

What is the shape of normal RBC?

Answer 18

Biconcave w\central depression

Question 19

What is the function of RBC?

Answer 19

Carrying O2 and CO2

Question 20

When gamma chain decreases what happens to Beta chain

Answer 20

Increase

Question 21

What is the globin polypeptide that is present all through our life?

Answer 21

Alpha

Question 22

What forms

HgA - A1 - F?

Answer 22

A: 2a - 2b
A2: 2a - 2d
F: 2a - 2g

Question 23

Which polypeptide is present before birth in low amount?

Answer 23

Delta and gamma

Question 24

How many loci of alpha and beta chain?

Answer 24

Alpha: 4 loci
Beta: 1 loci (2 gene)

Question 25

What is the percentage of HgbF?

Answer 25

70% at birth and trace by 6-12 month

Question 26

Hgb A2 is - High in: - Low in:

Answer 26

Hight: B-thalassemia Low: IDA and A-thalassemia

Question 27

What is the clinical hallmark of hemolytic anemia

Answer 27

Jaundice and pallor

Question 28

What are the hemoglobin in B0 thalassemia

Answer 28

Hg A2 and HgF | 2a + 2d - 2a+2g

Question 29

What is cooley anemia?

Answer 29

B0 thalassemia

Question 30

What are the clinical mainfestations in B-thalassemia major (B0)

Answer 30

[pallor - irritability - tachycardia - hepatosplenomegaly]

Question 31

What are the features of thalssemia major?

Answer 31

- frontal bossing, depressed nasal brydge, maxilla prominance (chipmunk)

Question 32

What is the blood film finding in thalassemia major?

Answer 32

Microcytic hypochromic + fragmented RBC (nucleated RBC) + bizzare shape cells

Question 33

What are the treatments in thalasemia intermedia?

Answer 33

Hydroxyurea and folic acid but they don’t need blood transfusion

Question 34

What happens in case of abscence of 3 alpha genes?

Answer 34

Hb H disease | Red cell inclusion and spleenomegaly

Question 35

What happens in case of abscence of 4 alpha genes?

Answer 35

Hydrops fetalis | Transfusion dependant

Question 36

In blood smear to differentiate between iron def anemia and

Answer 36

No target cell in IDA instead pencil and cigar cells are found

Question 37

What is hemoglobin S?

Answer 37

In beta chain instead of having glutamic acid at position 6 it becomes valine

Question 38

``` Define sickle cell disease - ss - sc - sb0 - sb+ - ```

Answer 38

- Hgs is >50% + no Hga1 - hgs <50% + yes hga1 - hbf, hba2, hbs + no hg1 - hgs >45% + small hga1

Question 39

What happens during oxygenated vs de-oxygenated state in sickle cell

Answer 39

Oxygenated: de-polymarized | De-oxygenated: polymarize. Increase rigidity and adhesivity

Question 40

Sickle shape and rigidity consequence

Answer 40

Sickle: hemolysis Rigidity: vaso-occlusive crisis

Question 41

What do howell jolly bodies indicate?

Answer 41

Dysfunctional spleen