May 9, 2011 (Monday) - Haemoglobinopathies

This month's topic for the specialist portfolio students is sections 7.1e & 7.4a-c: the haemoglobinopathies. So I revisited the four PowerPoint presentations I had already posted on the website of advice for the specialist portfolio. All of which have now been tweaked in one way or another.
The most significant change was the addition of a slide on non-HbS sickling haemoglobins. Personally I'm not entirely convinced that this term isn't a misnomer. All the non-HbS sickling haemoglobins I could find are effectively variants of Hb S:

  • Hb S-Providence  beta 6(A3) Glu>Val A & beta 82(EF6) Lys>Asn
  • Hb S-South End  beta 6(A3) Glu>Val & beta 132(H10) Lys>Asn
  • Hb Jamaica Plain beta 6(A3) Glu>Val & beta 68(E12) Leu>Phe
  • Hb S-Cameroon  beta 6(A3) Glu>Val & beta 90(F6) Glu>Lys
Mind you some have higher or lower solubity that Hb S. For example HbS Antilles sickles in the heterozygous form, so is probably worth a mention.
I wonder if I'm going into too much detail....

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