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Inherited Haemoglobin Disorders - Summary Notes

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A comprehensive, yet concise summary of the Inherited Haemoglobin Disorders topic in Medicine/ Surgery, presented in a colourful and digestible format. Includes all relevant information on the topic summarised, collated from multiple resources including lectures, textbooks, and guidelines. All my n...

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  • June 1, 2023
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  • 2022/2023
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Inherited Hb Disorders
·

Main Hb in adults is HbA, which contains 2 and 2B chains (22B2). Hb TYPES




Sickle Cell (HbSS)
Autosomal Recessive condition where HDS is made insted ofHbA.


·
Common in African, then middle eastern/SE asian
populations
as
carrying protects
the trait againstmalaria, so itis
genetically selected.


Sickle Cell Trait (HbAS):
carriers produce both HDS and HbA.
·




·

Protection against Malaria, but can be associated with kidney disease.
·

Risk HDSS
of
offspring.

Complications:

Alters structure of RBCs to 'sickle' shape, resulting in vaso-occlusive crises/Hyposplenism.
·




Increases haemolysis, increasing bilirubin and ... risk ofpigment gallstones/Jaundice.
·




Consequentcompensatory increase in haematopoiesis leads to folate deficiency.
·




·


Hyposplenism means to infections.
more
prone
Microcytic Anaemia. Diagnosis:
·




Vaso-occlusive Crisis -




Capillary occlusion by sickled RBCs. -low Hb, low MCV

accompanied by severe pain. high bilirubin
· -




·
Causes hyposplenism, so beware sepsis. -

sickled RBCs on blood film

Management:-82, Fluids, Analgesia. ttive sickle
solubility test
· -




Prophylactic (MWH. HPLC showing HbS
- -




Aplastic Crisis- sudden cease haematopoiesis
of from bone marrow.
·

occurs due to parvovirus BIG.
consider transfusion.
Management:self-limiting,
·




Sequastration Crisis -



pooling of blood in liver and spleen, resulting in shock.
in children.
·
more common

ASOCIATED DISEASE
Management:blood transfusion.
· S




Management:
Folic Acid supplementation:for deficiency.

Antibiotic Prophylaxis, Vaccinations:for infection risk.


carbimide:increases
my production, reduces crisis incidence.
HIF


Blood Transfusions:regular
programme.

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