TIL 1

and 2 - a cure for Sickle Cell Anemia / fetal hemoglobin

Note: many of the words used here have

alternative UK (and Commonwealth) spellings versus USA spellings. I am

using the USA versions throughout, though I personally prefer the UK

versions with their diphthongs and ligatures

like fœtal, but I blame my education for the

bias!

TLDR 1: A potential cure was approved in the UK in November 2023

for the blood disorder called Sickle Cell Anemia.

TLDR 2: The oxygen-carrying pigment in fetuses is different from

that in adults, and changes after birth.

I am interested in all types of science, but particularly in Biology

of all sorts (I have a BSc degree in Zoology).

I was listening to a podcast where the subject of a potential

treatment for Sickle Cell Anemia was discussed:

Sickle Cell Disease is an inherited blood disorder resulting in

anemia which has many complications and can be fatal. It is caused by an

abnormality in haemoglobin. It's a rather complex subject which we will

not go into here, though the Wikipedia

page has a lot of useful information.

A new treatment has been developed using genetic manipulation (CRISPR),

which increases the amount of fetal hemoglobin (Hemoglobin F) produced

by the stem cells in the bone marrow.

Red blood cells with Hemoglobin F do not form the sickle shape.

A "foetus" (UK) or "fetus" (US) is the unborn offspring that

develops from an animal embryo.

Hemoglobin is the oxygen-carrying protein in red blood cells. In the

fetus it is different from that in the adult, and is called

Hemoglobin F. Normally the fetal form is replaced by the adult

form after birth in the first 2-4 months.

Quote from Wikipedia: Hemoglobin F has a different composition

than adult forms of hemoglobin, allowing it to bind (or attach to)

oxygen more strongly; this in turn enables the developing fetus to

retrieve oxygen from the mother's bloodstream, which occurs through the

placenta found in the mother's uterus.

The change from fetal to adult haemoglobin has been known about for

many years (75+?) but I had never heard of it until recently.

Links

About the words "foetal", "fœtal" and "fetal":

Wikipedia:

Diphthong

Wikipedia:

Ligature (writing)

Wikipedia:

Sickle Cell Disease

Wikipedia:

CRISPR gene editing

Wikipedia:

Fetus

Wikipedia:

Hemoglobin

Wikipedia:

Fetal hemoglobin

Wikipedia:

Malaria

TIL 3 - Perl's birthday

The Perl scripting language was "born" in 1987 on December

18th.

See the Github

commit for the first released version

I'm a long-time devotee of Perl, and my birthday is the same day! I

didn't know this until today ☺

I'm more than twice as old though...

I find it quite interesting to look at the original ideas behind

Perl, which