Core Haematology - Haemoglobinpathies and Obstetric Haematology (38) Flashcards Preview

Clinical Pathology > Core Haematology - Haemoglobinpathies and Obstetric Haematology (38) > Flashcards

Flashcards in Core Haematology - Haemoglobinpathies and Obstetric Haematology (38) Deck (10):
1

Normal RBC

Bi-concave disks, no nucleus

2

Haemoglobin

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

3

Normal Hb combinations

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

4

Production of Hb

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

5

Haemolglobinopathies

Changes in globin genes/their expression > disease

6

Structural Hb variants

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

7

Thalamassaemias

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

8

Anetental screening

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

9

Post natal screening

Sickle cell disease

10

Pregnancy - physiological anaemia and macrocytosis

- Plasma vol expands 50%
- RBC mass expands 25%
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