Heme

Question 1

What two genetic syndromes increase your chance for thrombosis

Answer 1

Homocysteinutia

Proteus syndtome

Question 2

Why should NOonan syndrome be evaluated by hematology (AAP) article.

Answer 2

Can develop jmml ( which can resolve on own)

And other coagulation disorders ie. platelet disorders etc …

Question 3

What are 3 conditions that can develop leukemia ?

Answer 3

• down syndrome
• Noonan
• bloom

Question 4

Go through the AAP guidelines PRIMARY CARE HEALTH SUPERVISION for SICKLE CELL DISEASE

Answer 4

1- first visit within 2 months w/ heme if possible full hx and physical exam
Should see 1-2 / year until 5 years of age min.

First visit
2- genetic counselling @ first visit
-amox/pen for proph

Vaccinations
-pcv 13, pneumo vaccine -2,4,6,12-15mo
mcv 4 (x2) starting 2 years of age (8 months apart)
-flu vaccine q yearly starting 6 months

3) 2 years of age - tcd ( and year there after)
- screening based on hx:
- asthma (pft start at 6 years of afe)
- growth/maturation
- school/ development
- psych
- osa screen
- AVM ( screening radiographs)

4) Screening for retinopathy of sickle cell disease starting at 10 years of age year

Question 5

How do the following
Inherited Bone Marrow Failure Syndromes:
1. Diamond Blackfan Anemia

2. Schwachmann Diamond Anemia

Answer 5

• usually presents early in infancy
  
  • classically normochromic microcytic anemia
  • associated with a wide array of anomalies including craniofacial, thumb, cardiac and urogenital abnormalities
  • increased risk of myelodysplastic syndrome and leukaemia

2) * characterized by pancreatic exocrine insufficiency, bone marrow failure and metaphysical dysotosis (outer bones and thinnner than the inner)

Question 6

3. Fanconi Anemia - impaired response to DNA damage

how does this present ?

4. Dyskeratosis Congenita

Answer 6

• typically autosomal recessive, can be x-linked recessive in some cases
  
  • heterogenous, but usually involves progressive bone marrow failure and predisposition to malignancy
  • may have associated abnormalities including cafe au lait spots, malformed thumbs or forearms, infertility (affects most males, some females)
  • increased risk of myelodysplastic syndrome and leukaemia

4)

* may be x-linked recessive, autosomal dominant or autosomal recessive
* triad of: abnormal skin discoloration, nail dystrophy, mucosal leukoplakia

Question 7

Approach to neutropenia in neonate, child and adol

Answer 7

check ever note:

1) Benign
2) Acquired - medications, infection (sepsis, torch ie. cmv)
3) Congenital syndromes - ie. cyclic neutropenia of the newborn, Kostman syndrome, schewan diamond
4) immunodeficienct - CGD etc

Question 8

How do you treat NAIT ? What is the most common ANIT-BODY?

Answer 8

1) MATERNAL platelets
2) hpa-1 negative
3) IVIG usually just an adjunct

MOST COMMON is hpa1 negative platelets

Question 9

Name min 3 reasons why a baby may have polycythemia ?

Think when or WHERE can you get additional RBC / Hgb?

Answer 9

1) delayed cord clamping
2) Sydromic. ie. T21
3) Hypoxic insult: ie. pre-eclampsia, hypoxia, smoking in Mom
4) Infants of IDM
5) Twin to twin infusion

Question 10

What is the most common inherited aplastic anemia (bone marrow failure) ? How do you screen ?and what are the sign/ symptoms you would see (3 main ones)

Answer 10

Fanconi Anemia
• Lots of genes implicated
-chromosomal fragility test
• Congenital abnormalities:
a) short stature, 
digits, 
characteristic facies, 
cardiac issues, 
renal abnormalities etc.
-treat with BMT 
• Increased risk of cancers (avoid radiation)

Question 11

What maternal drugs can cause bleeding in the new born in the first 24 hours asides from thrombocytopenia ? (2)

Answer 11

• tb drugs

- anti-epileptic