Sickle Cell Disease

Front 1

What is Sickle cell disease?

Back 1

Haemoglobinopathy which is autosomal recessive. Results in abnormal beta chains called HbS. When deoxygenated the haem distorts and changes shape and can plug small vessels leading to symptoms.

Front 2

Acute Sickle cell presentations (4)

Back 2

Vaso-occlusive crisis - bone pain, tachycardia, sweating, fever

Sickl cell chest - emboli in lungs leading to infarct

Sequestration crisis - thrombosis venous outflow especially spleen in kids = splenomegaly, anaemia, collapse, death

Aplastic crisis - erythrovirus 19 infection leads to red cell aplasia + symptoms of heart failure.

Front 3

Prophylactic Rx of Sickle cell disease? (4)

Back 3

Same as if splenectomy:
Penicillin V
Vaccines - HiB, hep B,

Folic acid (anaemia)
Hydroxycarbamide

Front 4

What is beta thalassaemia?

Back 4

Haemoglobinopathy with failure to produce beta chains leading to hypochromic anaemia

Front 5

Rx beta thalassaemia(4)

Back 5

Bone marrow fail
Transfusion
Folic acid
(avoid iron as iron overloaded)
Splenectomy

Front 6

Concern of transfusions in beta thal?

Back 6

Iron overload which can lead to:
Cardiac toxicity
Liver disease
Endocrine fail

Front 7

What is haemophilus A?

Back 7

Deficiency of factor VIII

Front 8

Sx haem A? (4)

Back 8

Haemarthrosis
Bruising (NAI)
Muscle haematomas
Secondary OA due to haemarthosis destrcution of cartilage

Front 9

Rx Haem A

Back 9

IV infusion factor VIII
Desmopressin (raise factor VIII)

Front 10

Ix haem A?

Back 10

Increased APTT

Front 11

What is haem B?

Back 11

Deficiency factor IX

Front 12

Ix Haem B?

Back 12

Clinically indistinguishable Haem A - increased APTT

Front 13

Haem A genetics?

Back 13

X-Linked recessive

Front 14

Haem B genetics?

Back 14

X-Linked recessive

Front 15

Vit K dependant factors?

Back 15

2,7,9,10 (decreased liver disease - def = Increase INR/PT)