Paediatric haematology

Question 1

what chr are the globin genes on

Answer 1

11 and 16

Question 2

what are the normal haemoglobinas and how does their incidence change with age

Answer 2

HbA (A+B) - late foetaus through to adult
HbA2 (A+D) - infant to adult
HbF (A+G) - foetus and infant

Question 3

when does sickle cell anameia manifest

Answer 3

6mo - when % HbF dec

Question 4

how does sickle cell anaemia affect vasculature

Answer 4

hypoxia -> HbS polymerisation -> sickling of RBCs and adhesion to endothelium -> occlusion of sml blood vessels

Question 5

how is SCD tested for in neonates

Answer 5

guthrie test

Question 6

how will SCA presentation differ in children to adults

Answer 6

kids get hands and feet syndro - bone pain in hands and feet - not seen in adults

Question 7

what are kids with SCA are inc risk of compared to adults

Answer 7

have functioning spleen -> inc risk splenic sequestration and enlargement

inc risk parvovirus B19 and pneumococcal inf

Question 8

what may a parvovirus inf in a child with SCA lead to

Answer 8

aplastic crisis

Question 9

what would be suspected if the guthrie test showed no IgA

Answer 9

B thall

Question 10

what will be the results of poorly controlled B thalassemia

Answer 10

anaemia -> heart failure and growth retardation

Question 11

what will happen if B thall patients are not given iron chelation therapy

Answer 11

-> heart failure, hypogonadism, deposition in panc/pituitary gland

Question 12

what is the most common leukemia in kids

Answer 12

ALL

Question 13

what is the most common leukemia in kids <1y

Answer 13

AML

Question 14

what may present with a reduced f8

Answer 14

haemophilia A

also VWD - dec F8 as VWF protects F8 from deg