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)
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1
Q

Normal RBC

A

Bi-concave disks, no nucleus

2
Q

Haemoglobin

A

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

3
Q

Normal Hb combinations

A

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

4
Q

Production of Hb

A

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

5
Q

Haemolglobinopathies

A

Changes in globin genes/their expression > disease

6
Q

Structural Hb variants

A

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

7
Q

Thalamassaemias

A

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

8
Q

Anetental screening

A

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

9
Q

Post natal screening

A

Sickle cell disease

10
Q

Pregnancy - physiological anaemia and macrocytosis

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

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