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Pediatrics > Hemoglobinopathies > Flashcards

Hemoglobinopathies Flashcards

1
Q

Percentage of HgbA:

A

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

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2
Q

What are the complications of thalasemia major?

A 
Hemosidrosis 
- heart: mycardial-siderosis  
- Liver: hepatosplenomegaly
- pancreas: bronze diabetes
- anterior pituitary: dealyed puberty + short stature 
Chronic anemia
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3
Q

Why is there typical thalassemia fascial features

A

Frontal bossing, nasal brydge depression, maxillary prominance

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

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4
Q

How to prevent hemosiderosis in thalassemia patients?

A

.by iron chelators

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5
Q

What lis hypertransfusion given to patients with thalassemia major?

A

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

“Followed by iron chelator”

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6
Q

Ineffective erythropoesis in thalassemia major is caused by::

A

Tissue hypoxia

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7
Q

What is the management of thalassemia major?

A
  • hyper transfusion
  • deferoxamine
  • curative is stem cell transplantation
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8
Q

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

A
  • defirpone

- deerisorx

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9
Q

What is the definitive treatment of thalassemia major?

A

Stem cell

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10
Q

Beta thalassemia intermedia percentage:
A1:
A2:
F:

A

A1: trace
A2: 2%
F: 70

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11
Q

Where do we see target cell?

A

Beta thalassemia intermedia

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12
Q

What is hemoglobin bart and hemoglobin H?

A

Hemoglobin bart: gamma globin attach to each other

Hemoglobin H: beta globin attach to each other

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13
Q

The more F hgb in sickle cell indicates:

A

.

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14
Q

Reticulocyte count and presentation in hemolytic crisis and aplastic crisis

A

.

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15
Q

How to treat vso-occulsive crisis:

A

.

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16
Q

Define anemia

A

Decrease RBC volume, hg concentration, or hematocrit

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17
Q

What is the rate of hemoglobin change in pediatric

A

High after birth > Decrease > high at 7-12

18
Q

What is the shape of normal RBC?

A

Biconcave w\central depression

19
Q

What is the function of RBC?

A

Carrying O2 and CO2

20
Q

When gamma chain decreases what happens to Beta chain

A

Increase

21
Q

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

A

Alpha

22
Q

What forms

HgA - A1 - F?

A

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

23
Q

Which polypeptide is present before birth in low amount?

A

Delta and gamma

24
Q

How many loci of alpha and beta chain?

A

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

25
Q

What is the percentage of HgbF?

A

70% at birth and trace by 6-12 month

26
Q

Hgb A2 is

  • High in:
  • Low in:
A

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

27
Q

What is the clinical hallmark of hemolytic anemia

A

Jaundice and pallor

28
Q

What are the hemoglobin in B0 thalassemia

A

Hg A2 and HgF

2a + 2d - 2a+2g

29
Q

What is cooley anemia?

A

B0 thalassemia

30
Q

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

A

[pallor - irritability - tachycardia - hepatosplenomegaly]

31
Q

What are the features of thalssemia major?

A
  • frontal bossing, depressed nasal brydge, maxilla prominance (chipmunk)
32
Q

What is the blood film finding in thalassemia major?

A

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

33
Q

What are the treatments in thalasemia intermedia?

A

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

34
Q

What happens in case of abscence of 3 alpha genes?

A

Hb H disease

Red cell inclusion and spleenomegaly

35
Q

What happens in case of abscence of 4 alpha genes?

A

Hydrops fetalis

Transfusion dependant

36
Q

In blood smear to differentiate between iron def anemia and

A

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

37
Q

What is hemoglobin S?

A

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

38
Q 
Define sickle cell disease
- ss 
- sc
- sb0
- sb+
-
A
  • Hgs is >50% + no Hga1
  • hgs <50% + yes hga1
  • hbf, hba2, hbs + no hg1
  • hgs >45% + small hga1
39
Q

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

A

Oxygenated: de-polymarized

De-oxygenated: polymarize. Increase rigidity and adhesivity

40
Q

Sickle shape and rigidity consequence

A

Sickle: hemolysis
Rigidity: vaso-occlusive crisis

41
Q

What do howell jolly bodies indicate?

A

Dysfunctional spleen

Pediatrics (41 decks)

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