peacettw:


Redraw d chart but this time with AA and AC. Thanks

you said AA and AC
Why u showing AC and AC

pls I advise doctors and all other health professionals to ignore the rubbish posted by OP....
This is science...not mathematics.
AA marrying AS can never beget SS.

sod09:
you said AA and AC
Why u showing AC and AC

That was the only pic I could see online. You can create urs though.

noxide:
sainty2k3, I could not go through all 11 pages of this thread but I know have been reminded that an AA and AS couple can NEVER have an SS offspring.

It is IMPOSSIBLE

Your analogy of thalassemias where the β-thal coexists with the A gene is flawed because the patient's genotype is now Aβ, not AA as you erroneously stated

A laboratory could record AA as the genotype, but the patient is actually Aβ. as such an Aβ and AS couple can NEVER have an SS offspring.

Exclude clerical errors from the laboratory, that's the source of confusion

But can have a Sβ. Offspring which HB electrophoresis will show as SS phenotype, but most people don't know that difference between Genotype and phenotype, they just do electrophoresis and assumed that is their genotype

peacettw:


That was the only pic I could see online. You can create urs though.

unless you telling me AC is equal to sickle cell

ozodigboo:
pls I advise doctors and all other health professionals to ignore the rubbish posted by OP....
This is science...not mathematics.
AA marrying AS can never beget SS.

Bring out a science that disprove or keep quiet and stop the insults, be constructive in argument and not abusive, that's the only we to show us how mature and intelligent you are

YOU JUST PROVE TO US THAT MOST DRs HAVE TOLD US LIES
YOU ARE A GENIUS

anyebedgreat:
No way. This is how we know it and this is how it works.
AA + AA = AA, AA, AA, AA
AA + AS = AA, AS, AA, AS
AA + SS = AS, AS, AS, AS
AA + AC = AA, AA, AA, AC
AS + AS = AA, AS, AS, SS
AS + SS = AS, SS, SS, SS
AS + AC = AA, AC, AS,SS
SS + SS = SS, SS, SS, SS
AC + SS = AS, AS, SS, SS
AC + AC = AA, AC, AC, SS

Do not always stick to what you know.
Always keep an open mind to accept new ideas, and then test them against what you know to see if it's plausible.
Only then can you refute the new idea as baseless.
That's how you learn.

If the ancient scientists stubbornly stuck to the idea of a flat earth, infections being caused by bad air , the earth been the centre of the solar system etc, imagine what would have been.

Sainty2k3 put forward a sound scientific argument with available, proven evidence, and you disagreed without any evidence, but what you have always
known ??

Well, if you are a healthcare professional you should know there's NO "absolute" or "never" in medicine .

This simple maxim is why medicine has evolved, and continues to evolve till this day.

12 pages and we still debating.


Never heard of this happening


Except it is new info

jnrremedy:

OK o get it u are probably an hematologist so u understood all along but the doctor in u want to prove u know it all.............

if u are practising in Nigeria u know most doctors ( general practitioners ) will only stop at the gel electrophoresis level. you know cos u are an hematologist so don't think others no. I have come across a lot of doctors ( even non hematologist consultants) that will tell u they don't know its possible and will never ask for a confirmatory test if faced with same case

You are confusing yourself and the uninformed public by mixing up different disease entities and phenotype with genotype.

Science doesn't need catchy misleading headings to pass its message across.

Your heading is a scientific fallacy.

peacettw:


To help explain further, our people wrongly believe that its only ss that is Sickle cell disease. In truth, there are many 'combinations' like SC, SB-thal, SD punjab etc. (notice they all have one thing in common, at least one S in the combination)

Now let's put our heads together, how do you think people get these other types? ....
Ans: exactly the same way you get the ss.

So, if you are AS and get married to AC, AB-thal, or Ad punjab, u stand a risk of getting a child with Sickle cell disease. It's that simple.

Another question... How many of our labs here in Nigeria do you think can correctly detect AC, AB-thal, or Ad punjab?
Ans: Basically a few. I saw my first SC in a px 2 years ago in a 17 year old who was told her whole life that she was AS.
Most labs can't pick up the C, b thal or d punjab, once they see an A with no S, they automatically assume it to be AA but in truth might actually be AC, AB-thal, or Ad punjab.

In essence, it is possible for 'AA' (wc we know might actually be AC, AB-thal, or Ad punjab) to get married to AS and give birth to SC, SB-thal, SD punjab.. (wc again our labs will incorrectly call SS since they lack the proper equip to detect the C, b thal or d punjab.


I hope I have sufficiently cleared the air. Now, please go and spread the word and stop castigating that poor innocent woman.

So what u are saying in essence is pple that have been calling themselves AA might actually be carriers..not different from the usual AS.
Does it mean that AS too could actually be CS not knowing?
If the answer is NO! Please don't tell me dat AA dominant gene could actual have been a misdiagnosed AC due to equipment mumbo jumbo.

U ddnt clear any air ooo..i understand that science can be a bit incomplete and not all covering sometimes...but what u are saying now is all the so called AA should not rest their mind anymore cos they might actually be carriers of the sickle cell gene...
Later we will soon hear that universal donors O-negatives cannot actually give blood anymore cos there might be an undetected -ve in their blood making them O-positive in reality...
There's now explanation to justify all the outcomes of infidelity: dats how two black couple gave birth to a white child..u pple came and justified that she ddnt straff another man that it's possible....
Even DNA profiling, u pple will never give result that will never say 100% match..so at the end of the day all na probability..there's still a little chance left that ur findings are wrong....

1StopRudeness:


So what u are saying in essence is pple that have been calling themselves AA might actually be carriers..not different from the usual AS.
Does it mean that AS too could actually be CS not knowing?
If the answer is NO! Please don't tell me dat AA dominant gene could actual have been a misdiagnosed AC due to equipment mumbo jumbo.

U ddnt clear any air ooo..i understand that science can be a bit incomplete and not all covering sometimes...but what u are saying now is all the so called AA should not rest their mind anymore cos they might actually be carriers of the sickle cell gene...
Later we will soon hear that universal donors O-negatives cannot actually give blood anymore cos there might be an undetected -ve in their blood making them O-positive in reality...
There's now explanation to justify all the outcomes of infidelity: dats how two black couple gave birth to a white child..u pple came and justified that she ddnt straff another man that it's possible....
Even DNA profiling, u pple will never give result that will never say 100% match..so at the end of the day all na probability..there's still a little chance left that ur findings are wrong....

In a nutshell, you are right. Our genotypes might not be what we think it to be. The good thing though is dt this occurs rarely but if it does, we should not all assume that the woman was sleeping around.

noxide:
sainty2k3, I could not go through all 11 pages of this thread but I know have been reminded that an AA and AS couple can NEVER have an SS offspring.

It is IMPOSSIBLE

Your analogy of thalassemias where the β-thal coexists with the A gene is flawed because the patient's genotype is now Aβ, not AA as you erroneously stated

A laboratory could record AA as the genotype, but the patient is actually Aβ. as such an Aβ and AS couple can NEVER have an SS offspring.

Exclude clerical errors from the laboratory, that's the source of confusion

don't give judgment then if u cant read through

is not only HbSS that gives sickling condition
A thalessemic patient will still present with sickle cell disease similar to sickle cell anaemia and both will give the same result on an electrophoresis tank and the result are both right at that level ( not an error) most Nigerian doctors will not go beyond this test b4 concluding the patient is SS( and is because they don't know). this is the wrong knowledge the op is trying to correct cos cases like this can lead to mistrust and divorce among couples

Nigerians always talking rubbish....trying to re-invent the wheel......Bros AS + AA will not give SS, no amount of mathematics.....
Na so una dey cause confusion like Dino....

With this their nonsense knowledge na so them dey kill people for naija hospital....rubbish

eaglechild:

You are confusing yourself and the uninformed public by mixing up different disease entities and phenotype with genotype.

Science doesn't need catchy misleading headings to pass its message across.

Your heading is a scientific fallacy.

another doctor( I presume ) that don't want to learn
sickle cell disease is not only caused by genotype HbSS. the op clearly explained that the SS he qouted on the topic is phenotype not genotype. SS equals sickle cell disease ( as a phenotype) not genotype SS ( most of u ignorantly are quoting).

a lot of u guys don't know and u dont want to know

sainty2k3:

Bring out a science that disprove or keep quiet and stop the insults, be constructive in argument and not abusive, that's the only we to show us how mature and intelligent you are

Olodo....you still dey argue. Continue to swim in your folly

khalids:
Nigerians always talking rubbish....trying to re-invent the wheel......Bros AS + AA will not give SS, no amount of mathematics.....
Na so una dey cause confusion like Dino....

With this their nonsense knowledge na so them dey kill people for naija hospital....rubbish

most of u that will read will not understand( or not read at all) and u are ignorantly talking as if u know. see u don't know anything

genotype HbSS ( the one u know) is different from phenotype SS the one op is saying
all HbSS are sucklers but not all sicklers have HbSS. sickle cell disease is different from sickle cell anemia

in Nigerian hospitals most doctors erroneously assume all sicklers are of HbSS genotype. this has led to breakups of homes or how will a wife who is AS give birth to a sickler ( with an assumed but false genotype SS that even electrophoresis will confirm)when the husband is AA.


u won't understand the details if I should explain (reason u are misquoting the op) but just know that AA/AS couples can still give birth to a sickler and this is not a knew knowledge u just don't know

sod09:
unless you telling me AC is equal to sickle cell

You really get time for your hand sha

sainty2k3:


U mean all over the word HB electrophoresis is the conventional way for genotype testing? No, at least not alone, people combine with HPLC, FBC and blood film findings , other screening test to confirm the genotype if molecular studies will not be done

I maintain that HB electrophoresis is the conventional technique for Hb genotyping all over the world.

You seem not to know when screening tests should be indicated. Neither do you know what confirmatory tests are in this case.

But, I will gladly help your shallow knowledge.

Firstly, you don't confirm a diagnosis using screening test like you are porporting. In a suspected case of SCD based on clinical presentation of a patient, the clinician may requests for some lab tests which I am implicating as screening tests in this case. They may include;

- FBC ( full blood count)
- Sickling test
- PBF ( Peripheral blood film)
- ESR (Erythrocyte sedimentation rate)
- Bone marrow smear ( rarely done)
The judgement of the clinician will be based on the laboratory findings. For instance, if the sickling test is +be and there is presence of target cells & sickled Rbcs in the PBF result & a reduced Hematocrit (PCV) usually <30% in most cases of SCA from the FBC result, this would prompt the clinician to requests for a confirmatory test if he suspects a case of SS/SC from the patient's history. That confirmatory test is Hb electrophoresis.

Now, advanced confirmatory techniques for cases of SCD are;

- PCR
- Isoelectric focusing
- HPLC which you mentioned for suspected cases of alpha or Beta thalassamias.

Now, the only reason why a clinician will request for confirmation using advanced technique is when the laboratory findings is not in harmony with the clinical findings or expected signs and symptoms of the disease under review.

This is where your argument hold waters. That if a patient does not present with clinical manifestation that suit entirely the laboratory findings in a suspected case of SCA (SS). The clinician should not rule out the chances of the patient to be suffering from the thalassamias. Therefore the need for advanced testings aforementioned.

I hope you find this submission enlightening and be humble enough to thank me rather than more arguments.

Defcon1:


Do not always stick to what you know.
Always keep an open mind to accept new ideas, and then test them against what you know to see if it's plausible.
Only then can you refute the new idea as baseless.
That's how you learn.

If the ancient scientists stubbornly stuck to the idea of a flat earth, infections being caused by bad air , the earth been the centre of the solar system etc, imagine what would have been.

Sainty2k3 put forward a sound scientific argument with available, proven evidence, and you disagreed without any evidence, but what you have always
known ??

Well, if you are a healthcare professional you should know there's NO "absolute" or "never" in medicine .

This simple maxim is why medicine has evolved, and continues to evolve till this day.

It's a scientific argument yes but I can't see any proven or unproven evidence there, maybe you can point it out to me.

femi4:
Olodo....you still dey argue. Continue to swim in your folly

it just amazes me how people flaunt their ignorance rejoicing over their low IQ

Why not read learn and engage ur logical reasoning. cos u don't know something does not mean its is false

This particular topic has been discussed in clinical meetings of hematology department( where u have prof and consultants of haematology) in uch luth Akure specialist hospital and I was privileged to attend some of them

barcaboi:

this is just trying to play on our intelligence using medical jargon. That is how u mislead people into going into marriages based on mathematical jargon and ignoring medical advice and thereby giving more SS kids that deserves better......

Sorry I was actually talking to the Op
Thanks
Cheers!!

Abstract biology. It is possible for AA and AS couple to produce SS only through gene mutation.

Can't some people disagree honorably whilst staying on point of discourse without being abusive and insultive?

Protein0:

How's the quality of a thalassemic hemoglobin sir if Sbeta thalassemia is a result of the quantity of HB present?

Assuming I understood your question Sir, here is the clarification:
Haemoglobin (Hb) is a type of protein composed, structurally, of several amino acids arranged serially to form a chain of amino acids. There are two chains that make up Hb, called the α-chain and the β-chain.

In the β-chain, glutamic acid is naturally located at position 6 in the chain of amino acids, to form a normal haemoglobin called HbA. If this glutamic acid is replaced by another amino acid
called valine, then Haemoglobin S is formed. If both HbS genes are inherited, then sickle cell anaemia (HbSS) results.

If HbA and HbS are inherited a carrier state HbAS results.

If the same glutamic acid is replaced by lysine, another amino acid, HbC results, and if HbA and HbC are inherited together then HbAC results, if S and C then HbSC results.

HbS and HbC are abnormal haemoglobins, therefore Sickle Cell disease results if an individual inherits an abnormal haemoglobin in the presence of an HbS, e.g. HbSS, HbSC etc.

All the above are due to defect in the structure (quality) of haemoglobin not problem of number of amino acids but it has to do with problem od arrangement of those amino acids. Hence, Hb electrophoresis used to determine genotype analyses the structure of these amino acids which makes them possess different speeds as they pass through an electrical field, due to their weight (in a layman's language).

Thalasaemias are also forms of abnormal haemoglobin due to lack of production of the appropriate number of chains or lack of production at all.

For instance, if there is defect in the production or complete lack of production of the α-chain or β-chain (as the case may be), then α- or β-thalaseamia results. This is as a result of the quantity present or absent.

Therefore Hb electrophoresis does not detect Thalasaemias, it can only be detected through procedures that analyse the quantity and type of chains affected (quantitative analysis)

I hope I have been able to make some sense to you.

Cheers!

Protein0:

How's the quality of a thalassemic hemoglobin sir if Sbeta thalassemia is a result of the quantity of HB present?

Assuming I understood your question Sir, here is the clarification:
Haemoglobin (Hb) is a type of protein composed, structurally, of several amino acids arranged serially to form a chain of amino acids. There are two chains that make up normal adult haemoglobin, called the α-chain and the β-chain.

In the β-chain, glutamic acid is naturally located at position 6 in the chain of amino acids, to form a normal haemoglobin called HbA. If this glutamic acid is replaced by another amino acid
called valine, then Haemoglobin S is formed. If both HbS genes are inherited, then sickle cell anaemia (HbSS) results.

If HbA and HbS are inherited a carrier state HbAS results, which is not a form of sickle cell disease.

If the same glutamic acid is replaced by lysine, another amino acid, HbC results, and if HbA and HbC are inherited together then HbAC results, if S and C then HbSC results.

HbS and HbC are abnormal haemoglobins, therefore Sickle Cell disease results if an individual inherits an abnormal haemoglobin in the presence of an HbS, e.g. HbSS, HbSC etc.

All the above are due to defect in the structure (quality) of haemoglobin not problem of number of amino acids but it has to do with problem of arrangement of those amino acids. Hence, Hb electrophoresis used to determine genotype analyses the structure of these amino acids which makes them possess different speeds as they pass through an electrical field, due to their weight (in a layman's language).

Thalasaemias are also forms of abnormal haemoglobin due to lack of production of the appropriate number of chains or lack of production at all.

For instance, if there is defect in the production or complete lack of production of the α-chain or β-chain (as the case may be), then α- or β-thalaseamia results. This is as a result of the quantity present or absent.

Therefore Hb electrophoresis does not detect Thalasaemias, it can only be detected through procedures that analyse the quantity and type of chains affected (quantitative analysis)

Sβ-thalasaemia is a form of sickle cell disease due to the presence of both an S haemoglobin and another haemoglobin in which there is shortage in the number of the β-chain.

I hope I have been able to make some sense to you.

Cheers!

innosaint27:







Your analysis is comprehendable to even a tomatoes seller with no education.
But the OP has muddled up everything, creating unnecessary confusion for many.

He is only seeking to bring to the awareness of people, what alpha & Beta thalassamia are as types of SCD. Dragging sickle cell anaemia (SCA) into it wrongly made it all clumsy.

Thanks a million. I also think the Op should change his topic
Cheers!!

sainty2k3:
YES it is not impossible, couples that are AA/AS can give birth to SS , this is how
1. let me differentiate between haemoglobin genotype and haemoglobin phenotype
To get a particular GENOTYPE you have to do a genetic testing or use two or more of the screening test (the conventional electrophoresis that we do + HPLC or other similar test) to confirm the true genotype while hb PHENOTYPE is the appearance /characteristics of an individual haemoglobin on conventional electrophoresis which we loosely refer to as GENOTYPE
Most times when we call ourselves AA,SS,AS we are actually referring to our Haemoglogin PHENOTYPE and NOT GENOTYPE, as most of us don’t do genetic tests, all we do is haemoglobin electrophoresis
2. lets explain the concept of thalasemic trait. Thalassemias are quantitative defect of haemoglobin which means some one can be AA but the one or both A in this person is is absent otherwise known as thalassemia minor and major respectively. If such person run haemoglobin Electrophoresis( the test that we always loosely regard to as genotype) only A band will be seen and such a person will be regarded as AA. But they are also prone to anaemias and some certain abnormal features in the blood depending on the degree in the reduction in the defective A . such individuals can be Aβ-Thalassaemia(otherwise known as thalassaemic trait) if one of the’ A gene’ is normal, or β-Thalassaemia major if both are affected
3. lets merge the two concepts above and form AND SEE THE DIFFERENT PHENOTYPE THAT EXIST AND THE POSSIBLE CORRESPONDING GENOTYPE
If PHENOTYPE is AA the likely GENOTYPES will be AA , Aβ-Thalassaemia
If PHENOTYPE is SS the likely GENOTYPES will be SS, Sβ-Thalassaemia (MEANING THE OTHER ‘A’ THAT WOULD HAVE MADE THIS AN ‘AS’ IS TOTALLY ABSENT) Others might include SD,SG etc though these are very rare
If PHENOTYPE is AS the likely GENOTYPES will be SA (NOTE – ‘S’ COMES BEFORE ‘A’ BECAUSE THE A IS THALASSAEMIC, THOUGH NOT TOTALLY ABSENT AS THE ONE ABOVE ,IT IS SUSBSTANTIALLY REDUCE), or truely AS
4. Lets assume this our hypothetical couple have Hb eleterophoresis done and was told that the genotype of partner 1 is AA, and that of partner 2 is AS ,but the one that is called AA is actually Aβ-Thalassaemia as ealier mentioned. There possible offspring include
I. AA, If the child inherit the normal A from partner 1 and another normal A from partner 2
II. Aβ-Thalassaemia ,If the child inherit β-Thalassaemic A from the partner 1 and normal A from partner 2
III. AS,If the child inherit normal A from partner 1 and S from patner 2
IV. Sβ-Thalassaemia If the child inherit β-Thalassaemic A from partner 1 and S from partner 2
Note that scenario I above will show AA on Hb electrophoresis, scenario ii will show AA on electrophoresis, scenario iii will show AS on electrophoresis and scenario iv will show SS on electrophoresis
I have tried to simplify the medical terms but if you still have a doubt or clarification ask and I will try to shed more light, as much as I can.

Dude, stop scaring people with your crap. For y'all NLanders, it's quite rare and I mean 1 in 50000 cases. More or less like seeing the sun at night time. Dont be scared. Just avoid AS and AS relationships as that's the real threat. Even AA and SS is safe.

ChelseaDr:


Na na na, never supported him na. If you read my submission I made it clear that thalasaemia and HbSS are two different disease entities even though they are both forms of SCD and the way to diagnose them are different as well.

But if you look at what the Op said about the SS determined by electrophoresis, I think he made it clear it was not the real SS and that was why I brought the issue of quantitative analysis, because someone may be labelled SS not knowing that there may be a missing Hb chain.

And I also think the Op's topic is misleading.

Thanks thanks thanks my brother

Oh ok, I got your point. Regards.

innosaint27:






I maintain that HB electrophoresis is the conventional technique for Hb genotyping all over the world.

You seem not to know when screening tests should be indicated. Neither do you know what confirmatory tests are in this case.

But, I will gladly help your shallow knowledge.

Firstly, you don't confirm a diagnosis using screening test like you are porporting. In a suspected case of SCD based on clinical presentation of a patient, the clinician may requests for some lab tests which I am implicating as screening tests in this case. They may include;

- FBC ( full blood count)
- Sickling test
- PBF ( Peripheral blood film)
- ESR (Erythrocyte sedimentation rate)
- Bone marrow smear ( rarely done)
The judgement of the clinician will be based on the laboratory findings. For instance, if the sickling test is +be and there is presence of target cells & sickled Rbcs in the PBF result & a reduced Hematocrit (PCV) usually <30% in most cases of SCA from the FBC result, this would prompt the clinician to requests for a confirmatory test if he suspects a case of SS/SC from the patient's history. That confirmatory test is Hb electrophoresis.

Now, advanced confirmatory techniques for cases of SCD are;

- PCR
- Isoelectric focusing
- HPLC which you mentioned for suspected cases of alpha or Beta thalassamias.

Now, the only reason why a clinician will request for confirmation using advanced technique is when the laboratory findings is not in harmony with the clinical findings or expected signs and symptoms of the disease under review.

This is where your argument hold waters. That if a patient does not present with clinical manifestation that suit entirely the laboratory findings in a suspected case of SCA (SS). The clinician should not rule out the chances of the patient to be suffering from the thalassamias. Therefore the need for advanced testings aforementioned.

I hope you find this submission enlightening and be humble enough to thank me rather than more arguments.

You can't be a hematologist , you don't speak like one.
There are screening test and diagnostic test, the definitive diagnosis of am Hb Genotype is genetic testing.

However , combination of other screening testing might be used to confirm the findings on HB electrophoresis, u see an S only band , you might want to do pbf and sickling test and repeat the electrophoresis in an acidic medium since S,D and G moves together on alkaline medium but differently on acidic medium. HPLC is not only useful in thalassemia ,it can also be a pointer to the presence of some rare HB which might indicate genetic testing. All this tests are used in combination to increase the likelihood of identifying the genotype correctly without genetic testing

AlphaT1:

Oh ok, I got your point. Regards.

Thanks again.
I also people that are made moderators of a particular section should be individuals who have a good grasp of the subject of discourse, because if this was the case the Mod should have advised the Op to rephrase his topic and possibly remove all forms of ambiguity.

I hope Seun will act appropriately.

seun