Core Haematology - Haemoglobinpathies and Obstetric Haematology (38)

Question 1

Normal RBC

Answer 1

Bi-concave disks, no nucleus

Question 2

Haemoglobin

Answer 2

2 a 2 B, contain haem binding occurs, chains help keep molecule soluble, allows variation in oxygen affinity

Question 3

Normal Hb combinations

Answer 3

Hb-A 2a 2B
Hb-A2 2a 2delta
Hb-F 2a 2y

Question 4

Production of Hb

Answer 4

Yolk sac > liver and spleen (10-12 weeks) > bone marrow

Question 5

Haemolglobinopathies

Answer 5

Changes in globin genes/their expression > disease

Question 6

Structural Hb variants

Answer 6

Hb S, C, D, E (single base substitution in globin gene > altered structure/function)

Question 7

Thalamassaemias

Answer 7

Change in globin gene expression > reduced rate of synthesis of normal globin chains - imbalance of alpha and beta chain production

Question 8

Anetental screening

Answer 8

Routinely offered, chorionic villus biopsy and genetic diagnosis 8-12 weeks, termination of affected pregnancies

Question 9

Post natal screening

Answer 9

Sickle cell disease

Question 10

Pregnancy - physiological anaemia and macrocytosis

Answer 10

• Plasma vol expands 50%
• ## RBC mass expands 25%