Name: Ashoke Roy

Theme: Neonatal Haematology

 

OPTION LIST

 

A

Thalassaemia Major

I

G6PD deficiency

B

Thalassaemia Minor

J

Haemolytic Disease of the Newborn

C

Haemolytic Uraemic Syndrome

K

Von Willebrand’s Disease

D

Transient Abnormal Myelopoiesis

L

Haemophillia A

E

Acute Lymphoblastic Leukaemia

M

Haemophillia B

F

Acute Myeloblastic Leukaemia

N

Sickle Cell Anaemia

G

Hereditary Spherocytosis

O

Sickle Cell Trait

H

Hereditary Eliptocytosis

P

 

 

 

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

 

1. A 3 month old boy, of Greek origin is brought to A&E by his mother straight from his christening.  On examination, he is crying and appears jaundiced.  Mild splenomegaly is felt in his abdomen.  His mother says he has a fever and she notes that his urine was very dark when she changed his nappy.  Investigation of his blood film reveals polychromatic macrocytes and irregularly shaped red blood cells.  You also note his “special christening clothes” that his mother proudly tells you have been in the family for generations, they smell strongly of moth balls.  Assay for G6PD reveals a normal level.  

 

 

2. A 6 month old girl is brought to her GP by her Greek Cypriot parents.  They complain that she looks small compared to their neighbour’s baby of the same age.  They also think her face looks funny.  On examination, you note pallor and jaundice, the baby’s skull appears bossed and there is maxillary prominence.  There is also marked hepatosplenomegaly.  Her blood film shows a microcytosis and haemoglobin analysis shows high levels of HbF and HbA2.

 

 

3. A young boy is referred to you because of prolonged bleeding following circumcision.  You also note some bleeding of the gums. Coagulation tests reveal a normal PT and APTT but increased Bleeding Time.  Analysis of clotting factors reveals a low Factor VIII.

 

 

4. A baby is noted to be jaundiced a few days after birth, with marked anaemia.  Examination reveals an enlarged spleen.  The blood film shows numerous spherocytes.  On questioning the parents, the father says his mother told him he was a “bit yellow” as a child.

 

 

5. A baby with Down’s syndrome is noted, on routine blood testing, to have large numbers of circulating megakaryocyte blast cells and nucleated red blood cells.  A repeat blood film 2 months later is normal.

 

 

ANSWERS

1. I

2. A

3. K

4. G

5. D