An op in an earlier thread tried his best to pass across an important message which was misconstrued.
https://www.nairaland.com/3922963/yes-it-not-impossible-aa


I understood his line of thought and tried replying to some who didn't understand him but along the line thought it better to create a new thread.

Below is what the op was trying to explain in layman's terms.

Our people wrongly believe that the only Sickle cell disease out there is SS. 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 now 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 and seeing one S and no A will call automatically it SS).

If you are in doubt, then recheck your genotypes in a center with the right equipments.


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


Cc: seun, mynd44, lalasticlala

Nice one O.P

It is very possible and the guy explained as best as possible. But there are people who have their minds so closed that even if you tell them your own name, they will still doubt you.

thesicilian:
It is very possible and the guy explained as best as possible. But there are people who have their minds so closed that even if you tell them your own name, they will still doubt you.

I can understand non medical people thinking that way but was shocked to also see that some in the med field failed to grasp this simple concept too.

OK.

The problem I had with that thread was its title, it was quite misleading in my opinion.

And his explanation was not for the layman, you must have an idea before you understand, if someone who is not medically inclined can't get what you are saying of what use is it?

AC, SC and CC are commonly detected now.

He should have just said there can be misdiagnosis and all these forms can/may be detected as SS and advance testing needs to be done.

peacettw:


I can understand non medical people thinking that way but was shocked to also see that some in the med field failed to grasp this simple concept too.

Yeah, I was indeed disappointed in the guy. I believe he's indeed a medical doctor, but he should have done some quick research before coming up to say what he said. I didn't see any need to counter him, I'm sure he'll find out soon enough the truth.

NoToPile:
The problem I had with that thread was its title, it was quite misleading in my opinion.

And his explanation was not for the layman, you must have an idea before you understand, if someone who is not medically inclined can't get what you are saying of what use is it?

AC, SC and CC are commonly detected now.

He should have just said there can be misdiagnosis and all these forms can/may be detected as SS and advance testing needs to be done.

But he mentioned it although hidden in scientific terms.

peacettw:
An op in an earlier thread tried his best to pass across an important message which was misconstrued.
https://www.nairaland.com/3922963/yes-it-not-impossible-aa


I understood his line of thought and tried replying to some who didn't understand him but along the line thought it better to create a new thread.

Below is what the op was trying to explain in layman's terms.

Our people wrongly believe that the only Sickle cell disease out there is SS. 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 now 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 and seeing one S and no A will call automatically it SS).

If you are in doubt, then recheck your genotypes in a center with the right equipments.


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


Cc: seun, mynd44, lalasticlala

Dear OP, genetically it is impossible for a certified AA and AS couple to have an SS offspring. You should be aware that all those other haemoglobinopathies (abnormal haemoglobins) you mentioned are not common at all in this part of the world. Punjab is seen in India, most B-thalassaemia traits are incompatible with life i.e the baby may even die in-utero and not come to term at all (especially B-thalassaemia major). I cant start going into details right now but it'll help you if you go online and read about Haemoglobinopathies and Thalassaemia. Better still, meet a Doctor to get more knowledge. Bottom line, error in diagnosing other abnormal haemoglobins apart from the S and C (C is rare in Nigeria) is nearly impossible

peacettw:


But he mentioned it although hidden in scientific terms.

Happy you said scientific terms, the only thing some people will see on that thread is AA plus AS can give you SS and that's what they will carry about.


Everybody knows what SS is, most people don't know about the technicalities involved with the other forms.

Modified.

escodotman:
Dear OP, genetically it is impossible for a certified AA and AS couple to have an SS offspring. You should be aware that all those other haemoglobinopathies (abnormal haemoglobins) you mentioned are not common at all in this part of the world. Punjab is seen in India, most B-thalassaemia traits are incompatible with life i.e the baby may even die in-utero and not come to term at all (especially B-thalassaemia major). I cant start going into details right now but it'll help you if you go online and read about Haemoglobinopathies and Thalassaemia. Better still, meet a Doctor to get more knowledge. Bottom line, error in diagnosing other abnormal haemoglobins apart from the S and C (C is rare in Nigeria) is nearly impossible

I am a doctor and if you are too then saying that something is rare doesn't mean it isn't possible. As doctors, we are always taught in medical school and residency that nothing is ever constant. Anything can change and once explained with facts, it becomes the norm until someone else discovers something different and so on.

Unless, you have traced the genealogical histories of every person in Nigeria, then please know dt it is very possible to see even the rarest of genes here.

NoToPile:




Happy you said scientific terms, the only thing some people will see on that thread is AA plus SS can give you SS and that's what they will carry about.


Everybody knows what SS is, most people don't know about the technicalities involved with the other forms.

True again, hence the reason I broke it down so that many will understand

peacettw:


I am a doctor and if you are too then saying that something is rare doesn't mean it isn't possible. As doctors, we are always taught in medical school and residency that nothing is ever constant. Anything can change and once explained with facts, it becomes the norm until someone else discovers something different and so on.

Unless, you have traced the genealogical histories of every person in Nigeria, then please know dt it is very possible to see even the rarest of genes here.

Oh good that you are also a doctor. Then you should have been taught in medical school that thalassaemias are very very different from haemoglobinopathies. The S, the C are all haemoglobinopathies and not thalassaemias. Thalassaemias are either quantitative or qualitative defects in the globin chain synthesis of normal haemoglobinns

peacettw:


True again, hence the reason I broke it down so that many will understand

I went through the link you posted and I can tell you that it was greatly distorted of facts. Moreover, ordinary haemoglobin electrophoresis will reveal the S, A, C etc bands if carried out in a certified medical facility, not by quacks. So the basis of an AA likely to be actually genetically AS is false and very very very untrue because haemoglobins A and S have different mobilities on the electrophoretic band and they travel at different speed

escodotman:
Oh good that you are also a doctor. Then you should have been taught in medical school that thalassaemias are very very different from haemoglobinopathies. The S, the C are all haemoglobinopathies and not thalassaemias. Thalassaemias are either quantitative or qualitative defects in the globin chain synthesis of normal haemoglobinns

I am a doctor too....

Thalassemias are also hemoglobinopathies, at least that was what I was taught in hematology class....

@topic: yes I read through the last thread, and actually, I don't see the fuss in it....

I have seen many cases of SC and even AC during both medical school and practice itself, but haven't come across the Punjab trait or any of the thalassemias....

Thalassemia is common in the Mediterranean, though may be rarely seen in Africa....

The Punjabi trait is found more in India, though may be rarely found in southern Africa too....

In medical practice, we know the saying "common things occur commonly" quite well, so I don't think we should bother about the Punjab or thalassemia hemoglobinopathies, and if we come across them we promptly refer to a teaching hospital to see the consultant hematologist and his team of residents.....

Ordinary SS some doctor no fit manage, na Punjab genotype we dey open yansh about, na wa oooo

peacettw:


True again, hence the reason I broke it down so that many will understand

This false assumption you are supporting and misleading Nigerians, was it what you were taught in medical school by your lecturers Were you taught in Genetics and Paediatrics that AA could be actually AS due to some baseless phenotypic permutations in the absence of wrong diagnosis?? Chai

Lagusta:


I am a doctor too....

Thalassemias are also hemoglobinopathies, at least that was what I was taught in hematology class....

@topic: yes I read through the last thread, and actually, I don't see the fuss in it....

I have seen many cases of SC and even AC during both medical school and practice itself, but haven't come across the Punjab trait or any of the thalassemias....

Thalassemia is common in the Mediterranean, though may be rarely seen in Africa....

The Punjabi trait is found more in India, though may be rarely found in southern Africa too....

In medical practice, we know the saying "common things occur commonly" quite well, so I don't think we should bother about the Punjab or thalassemia hemoglobinopathies, and if we come across them we promptly refer to a teaching hospital to see the consultant hematologist and his team of residents.....

Ordinary SS some doctor no fit manage, na Punjab genotype we dey open yansh about, na wa oooo

Abi oooo. No mind them. But still, ask a Resident you meet or better still, google and read it properly, Thalassaemias are different from Haemoglobinopathies. Thalas could either be quantitative (globin chain defect) or qualitative (amino acid defect). The degree of these defects could lead to either Thalassaemia minor (one globin chain defect) or Thalassamia major (both globin chain defect) wchich is incompatible with life

escodotman:
This false assumption you are supporting and misleading Nigerians, was it what you were taught in medical school by your lecturers Were you taught in Genetics and Paediatrics that AA could be actually AS due to some baseless phenotypic permutations in the absence of wrong diagnosis?? Chai

You know I am beginning to think that unless there is an A or an S tucked in somewhere, then all logical thinking shuts down. Please read my post again and carefully this time cos it seems you veered off from my line of reasoning.

escodotman:
Abi oooo. No mind them. But still, ask a Resident you meet or better still, google and read it properly, Thalassaemias are different from Haemoglobinopathies. Thalas could either be quantitative (globin chain defect) or qualitative (amino acid defect). The degree of these defects could lead to either Thalassaemia minor (one globin chain defect) or Thalassamia major (both globin chain defect) wchich is incompatible with life

I will assume that you are one of my med students now... Let's go back to basics


What makes up Sickle cell disease and differentiate that from Sickle cell anemia?

How can one inherit these Sickle cell diseases?

In a developing country that lacks the basic tools to detect Sickle cell diseases, what problems are to be expected? Explain this from a medical and social context?

Finally, what can we do to mitigate these errors and how best can we educate the public?

escodotman:
Abi oooo. No mind them. But still, ask a Resident you meet or better still, google and read it properly, Thalassaemias are different from Haemoglobinopathies. Thalas could either be quantitative (globin chain defect) or qualitative (amino acid defect). The degree of these defects could lead to either Thalassaemia minor (one globin chain defect) or Thalassamia major (both globin chain defect) wchich is incompatible with life

My oga, I'm sorry but you're mixing it up....

Both are hemoglobinopathies, reason being that the sickle cell genotype is caused by a qualitative defect in which an amino acid replaces another (can't remember) making the red blood cells to form a sickle shape in a hypoxic environment.....

Whereas the thalassemias are caused by a quantitative defect as u rightly said.....

I wish a hematologist was here to clarify this....

peacettw:


I will assume that you are one of my med students now... Let's go back to basics


What makes up Sickle cell disease and differentiate that from Sickle cell anemia?

How can one inherit these Sickle cell diseases?

In a developing country that lacks the basic tools to detect Sickle cell diseases, what problems are to be expected? Explain this from a medical and social context?

Finally, what can we do to mitigate these errors and how best can we educate the public?

Hahahahahaha, maami you finally schooled him!!!!

Lagusta:


Hahahahahaha, maami you finally schooled him!!!!

School who? Biko make I hear word!!! Funny dude

Lagusta:


My oga, I'm sorry but you're mixing it up....

Both are hemoglobinopathies, reason being that the sickle cell genotype is caused by a qualitative defect in which an amino acid replaces another (can't remember) making the red blood cells to form a sickle shape in a hypoxic environment.....

Whereas the thalassemias are caused by a quantitative defect as u rightly said.....

I wish a hematologist was here to clarify this....

Bros thalassaemias and haemoglobinopathies are thesame ryt? Phew... I give up dear.

peacettw:


I will assume that you are one of my med students now... Let's go back to basics


What makes up Sickle cell disease and differentiate that from Sickle cell anemia?

How can one inherit these Sickle cell diseases?

In a developing country that lacks the basic tools to detect Sickle cell diseases, what problems are to be expected? Explain this from a medical and social context?

Finally, what can we do to mitigate these errors and how best can we educate the public?

Do you really want me to go into all these on NL?? *sigh*

peacettw:


I will assume that you are one of my med students now... Let's go back to basics


What makes up Sickle cell disease and differentiate that from Sickle cell anemia?

How can one inherit these Sickle cell diseases?

In a developing country that lacks the basic tools to detect Sickle cell diseases, what problems are to be expected? Explain this from a medical and social context?

Finally, what can we do to mitigate these errors and how best can we educate the public?

Where exactly are u driving at, asking a medical professional all these questions, like u are his lecturer. If a medical professional doesn't know the difference between disease (SC, SThal etc), and Anaemia( ,SS), then medicine in Nigeria is bleak. I follow Nigerian doctors and it's time for a change. Medical jousting, slandering, and name calling is at its best in Nigeria. These have to stop.

escodotman:
Bros thalassaemias and haemoglobinopathies are thesame ryt? Phew... I give up dear.

Bros please stop embarrassing yourself!!!!

I didn't say thalassemias and hemoglobinopathies are the same.....

The hemoglobinopathies are broadly divided into qualitative and quantitative hemoglobinopathies....

The qualitative hemoglobinopathy occurs when an amino acid gets replaced.....

The quantitative one leads to a whole globin chain defect.....

Chaaaiii na wa ooo, go for CME u no gree, na chronic MO u come be....

sgtponzihater1:


Where exactly are u driving at, asking a medical professional all these questions, like u are his lecturer. If a medical professional doesn't know the difference between disease (SC, SThal etc), and Anaemia( ,SS), then medicine in Nigeria is bleak. I follow Nigerian doctors and it's time for a change. Medical jousting, slandering, and name calling is at its best in Nigeria. These have to stop.

Someone that doesn't know that thalassemia is a form of hemoglobinopathy does not deserve the medical degree abeg.....

escodotman:
Do you really want me to go into all these on NL?? *sigh*

No dear, I don't. Just keep an open mind is all I am saying. The textbooks might say one thing but please always remember that there is always that interplay with other important factors. In our case, our lack of needed resources and sociocultural background

The hemoglobinopathies encompass all genetic diseases of hemoglobin. They fall into two main groups: thalassemia syndromes and structural hemoglobin variants (abnormal hemoglobins). α- and β-thalassemia are the main types of thalassemia; the main structural hemoglobin variants are HbS, HbE and HbC. There are many subtypes and combined types in each group. The highly variable clinical manifestations of the hemoglobinopathies range from mild hypochromic anemia to moderate hematological disease to severe, lifelong, transfusion-dependent anemia with multiorgan involvement. Stem-cell transplantation is the preferred treatment for the severe forms of thalassemia. Supportive, rather than curative, treatment consists of periodic blood transfusions for life, combined with iron chelation. Drugs to treat the symptoms of sickle-cell disease include analgesics, antibiotics, ACE inhibitors and hydroxyurea. Blood transfusions should be given only when strictly indicated. More than 90% of patients currently survive into adulthood. Optimally treated patients have a projected life span of 50 to 60 years.

Source:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163784/

The guy read wikipedia, when he knows wikipedia is the worst reference any doctor would go to.....

Nigerian doctors..... Na wa ooo

Lagusta:


Someone that doesn't know that thalassemia is a form of hemoglobinopathy does not deserve the medical degree abeg.....

It is you who is ignorant of basic Genetics. You can only say haemoglobinopathy is a form of Thalassaemia and not the other way round. Stop disgracing the school you finished from. I dont want to insult your lecturers cos some of them may be my friends or senior colleagues

emoglobin is produced by genes that control the expression of the hemoglobin protein. Defects in these genes can produce abnormal hemoglobins and anemia, which are conditions termed "hemoglobinopathies". Abnormal hemoglobins appear in one of three basic circumstances:
Structural defects in the hemoglobin molecule. Alterations in the gene for one of the two hemoglobin subunit chains, alpha (a) or beta (b), are called mutations. Often, mutations change a single amino acid building block in the subunit. Most commonly the change is innocuous, perturbing neither the structure nor function of the hemoglobin molecule. Occasionally, alteration of a single amino acid dramatically disturbs the behavior of the hemoglobin molecule and produces a disease state. Sickle hemoglobin exemplifies this phenomenon.

Diminished production of one of the two subunits of the hemoglobin molecule. Mutations that produce this condition are termed "thalassemias." Equal numbers of hemoglobin alpha and beta chains are necessary for normal function. Hemoglobin chain imbalance damages and destroys red cells thereby producing anemia. Although there is a dearth of the affected hemoglobin subunit, with most thalassemias the few subunits synthesized are structurally normal.

Abnormal associations of otherwise normal subunits. A single subunit of the alpha chain (from the a-globin locus) and a single subunit from the b-globin locus combine to produce a normal hemoglobin dimer. With severe a-thalassemia, the b-globin subunits begin to associate into groups of four (tetramers) due to the paucity of potential a-chain partners. These tetramers of b-globin subunits are functionally inactive and do not transport oxygen. No comparable tetramers of alpha globin subunits form with severe beta-thalassemia. Alpha subunits are rapidly degraded in the absence of a partner from the beta-globin gene cluster (gamma, delta, beta globin subunits).

Source:http://sickle.bwh.harvard.edu/hemoglobinopathy.html

Well?

escodotman:
It is you who is ignorant of basic Genetics. You can only say haemoglobinopathy is a form of Thalassaemia and not the other way round. Stop disgracing the school you finished from. I dont want to insult your lecturers cos some of them may be my friends or senior colleagues

Just whistling by....