Compare - Which is worse - SC or SS genotype?

Описание: Which is worse - SC or SS genotype ?
Learn about the haemoglobin C and how it affects people with the abnormal gene - AC, SC or CC genotypes.

7-point checklist: https://askawayhealth.org/as-genotype...


Which is worse - SC or SS genotype?
Today's video, I look at another type of inherited abnormal haemoglobin disease - Haemoglobin C and how those with the condition are affected.
Lastly, we consider - who gets worse disease: people with Hb SS or Hb SC - let's begin.

First, we are familiar with Haemoglobin S. It was the first abnormal haemoglobin discovered.
It is the abnormal type of the haemoglobin protein, which, causes sickling of the red blood cell.

How is haemoglobin classified?
Haemoglobin is a protein of different chains whose chemical structure is controlled by our genes.

But there are different types of haemoglobin.
One way they to identify them is a process called electrophoresis
which separates all the different parts of a substance.

And by identifying different molecules in particular haemoglobin types, we came up with Hb A, Hb C, Hb D, Hb E. Hb F and so on - named alphabetically in the order of discovery; except for S (named for the sickle shape).

Even among a haemoglobin type, there could still be structural differences.
These are designated based on the city or location where they were first detected - so we have Hb C Harlem or Hb S Memphis.


How are Haemoglobin C and Haemoglobin S different?
Hb S is different from the normal Hb type - Hb A.
The difference is one specific protein change between the two Hb types, A and S; and this is very similar to Hb C.
So Hb S and Hb C are also different in the particular protein that makes up the chains in their structure.

What are the Haemoglobin C conditions?
Haemoglobin C (Hb C) is one of the most common structural haemoglobin variants in the human population.
The inheritance of the Hb C gene is also similar to that of Hb S.
This means to have the Hb C gene, you have received the gene from one or both of your parents.
Hb C is found in various populations in Africa, southern Europe, and South and Central America.
Population studies suggest the highest occurrence of Hb C to be in Burkina Faso, West Africa.

Haemoglobin AC
If you inherit only one C gene and no other abnormal genes, then you have the Hb AC and are a haemoglobin C carrier or trait.

Haemoglobin C carriers appear healthy, with no clinical abnormalities - just like those with the sickle carrier state (AS).

Some studies have suggested the AC genotype confers a protective effect from malaria (like AS) - but this is not conclusive as other studies did not show the same result.

Before we go to the next segment, I'm going to share my free 7-point checklist for what you should know with AS genotype - make sure you watch this video to the end to find out how to get your copy.

Haemoglobin CC (Haemoglobin C disease).
This happens when a person inherits two copies of the abnormal C gene from each parent.
Unlike those with the SS genotype, people with CC do not have severe disease.

They do form abnormal haemoglobin which also changes their red cells.
In this case, they have only a mild degree of red cell destruction and anaemia, so the clinical scenario is less complicated than sickle cell anaemia.

Haemoglobin S-C disease (Hb SC)
In this form of the disease, the individual has inherited BOTH an abnormal S gene from one parent; and an abnormal C gene from the other.

It is not an unusual development - for example if the parents are AS and AC; or they are SS and AC, or they are CC and SS etc.

This can, therefore, have significant consequences and parents in this category should have genetic counselling and guidance where available.

We have found that the symptoms or illness associated with Haemoglobin SC disease are similar but less severe than those of Haemoglobin SS disease.


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Dr Sylvia Kama-Kieghe is a General Practitioner and Urgent Care professional with nearly 20 years of practice in Nigeria and the United Kingdom.

Her focus is on providing medical information that can help people make smart health care decisions.