joyandfaith:


that is misdiagnosis. I repeat with good clinical history the misdiagnosis can be avoided in clinical practice. the heading is misleading. the heading could have been , "Medical laboratories in Nigeria can misdiagnose AA or AS as SS''

jnrremedy:

the common gel electrophoresis will read SS for a S beta thalessemia will u call that a misdiagnosis also bear in more mind that clinical manifestation of beta thalessemia is similar to sickle cell disease though they re different conditions

sainty2k3:

Scsensrio iv, the genotype is actually Sbeta thalassemia( meaning there is inheritance of one S haemoglobin and the other which is supposed to be A is genetically deleted) on HB electrophoresis only S band will be seen leading being tagged as SS

stevecantrell:


Hey im not being personal, just being general in my advice.

Ive seen a few marriages crash because the woman was caught out on genotyping .

jnrremedy:

I partially agree with u but the fact/information the op is trying to give is that a AS AA couple can give birth to a misdiagnosed SS offspring ( a s beta thalessemia) and an informed doctor should call for HPLC test to confirm but what u have is that a doctor will even say it is impossible. this is very misleading

98% of hospitals in Nigeria use gel electrophoresis for blood genotyping to detect or rule out or prevent heamogblobinopathies
this is wrong cos gel electrophoresis is wrong and the saddening part is that most doctors don't know and they don't want to know

chalondk:



Oga you are funny oo.. you mean to tell me if i go a hispital to check for my genotype they would start checking something else and tell me tjat is a my genotype abi??

You are twisting the conversation to say someones genotype is AA but his phenotype is something else.. like that is the talk.

CAN PARTNERS OF GENOTYPE AA AND AS GIVE BIRTH TO AN SS CHILD

innosaint27:






OP, I'd like to thank you for this educative topic. However, you failed in all totality to establish the possibility of AA + AS = SS.

There is no scientific nor spiritual conjure that can make that happen. It has never happened and will not happen sir!

You have done well by trying to enlighten us on the phenotype - Genotype saga.

You don't delve into hemoglobinopathies with misleading information. Mind you, not everyone on this thread is medically inclined, so we all deserved a robust research before dumping it here.

The caption of your subject of discussion is very wrong. You would have done better by simply letting us know that what we call genotype is actually phenotype and genotype is quantified at the molecular level using advanced techniques.

Have you ever seen an AA who got married to an AS give birth to SS
And if such happens, paternity test would be called for because, it is not on record anywhere. Not in any journal of haematology.

OP, I dey fear who no fear you oooh. Haba!

It is just like you saying, it is possible for blood group O + O to give birth to a child who is B or A. That is not possible. They can only give birth to a child with blood group O.

Finally, oga this your post is misleading, confusing & has no backbone. I dare you to quote some reference.

My advice is for you to do a review and re-caption it.

oviejnr:
Bro Na true Na. Op just wan brainwash us.

innosaint27:






OP, I'd like to thank you for this educative topic. However, you failed in all totality to establish the possibility of AA + AS = SS.

There is no scientific nor spiritual conjure that can make that happen. It has never happened and will not happen sir!

You have done well by trying to enlighten us on the phenotype - Genotype saga.

You don't delve into hemoglobinopathies with misleading information. Mind you, not everyone on this thread is medically inclined, so we all deserved a robust research before dumping it here.

The caption of your subject of discussion is very wrong. You would have done better by simply letting us know that what we call genotype is actually phenotype and genotype is quantified at the molecular level using advanced techniques.

Have you ever seen an AA who got married to an AS give birth to SS
And if such happens, paternity test would be called for because, it is not on record anywhere. Not in any journal of haematology.

OP, I dey fear who no fear you oooh. Haba!

It is just like you saying, it is possible for blood group O + O to give birth to a child who is B or A. That is not possible. They can only give birth to a child with blood group O.

Finally, oga this your post is misleading, confusing & has no backbone. I dare you to quote some reference.

My advice is for you to do a review and re-caption it.

funmisticqueen:
Everything is not clear especially lack of evidence to support your claim. Cos i am sure your refrences if you have any would explain this better in a way that a bricklayer would understand.

Also please use paragraphs, they are very key.

funmisticqueen:
Why am i not surprised sgtponzihater is here again to display ignorance eloquently. The issue we have with op is that he cannot accurately backup his claim with scientific evidence. He is busy quoting news articles and that simply isn't done

joyandfaith:


doctors are right because AA and AS cannot produce SS. if it happens doctors know something is missing or wrong.

lexy2014:
so u understand all those things they wrote?

jnrremedy:

this is a scientific/medical fact the reason u are not aware is cos beta thalessemia is not that common here ( but it there re sufferers) cos u don't no doesn't mean it does not exist
no need to argue just learn this night

Protein0:


U r not getting my question.
Was it not d thalassemic trait inherited from partner 1?
It was read as A in d parent, right?
Why as S in d offspring?

Modified, d genotype is Sbeta thalassemia in d child just as partner 1's genotype is Abeta thalassemia.

jnrremedy:

being a doctor doesn't mean u know everything pls go and update ur knowledge of hemoglobin defects or simply visit sickle cell center in igbobi Lagos.
and yes it is very very possible for a AA and AS couple to give birth to a sickler though not the SS sickler (but electrophoresis will read the genotype as SS)
a lot of doctors/ medical personnel don't know this

jnrremedy:

being a doctor doesn't mean u know everything pls go and update ur knowledge of hemoglobin defects or simply visit sickle cell center in igbobi Lagos.
and yes it is very very possible for a AA and AS couple to give birth to a sickler though not the SS sickler (but electrophoresis will read the genotype as SS)
a lot of doctors/ medical personnel don't know this

sainty2k3:

Correct

joyandfaith:


doctors are right because AA and AS cannot produce SS. if it happens doctors know something is missing or wrong.

naijaking1:


Classic Sickle cell disease denoted by AS and SS are different and must be differentiated from Thalassemia major and minor.
Sickle cell:
1. Mostly among African and African American
2. Genetic abnormality is substitution of glutamic acid for valine at the 6th beta position
3. Clinical presentations maybe similar, but doesn't have the variations of Thalassamia

Thalassamia:
1. Mostly among people of Mediterranean descent
2. Genetic substitution of glutamic acid for lysine, not valine as in SCD
3. Wide clinic presentations from the instantly fatal absence of both alpha and beta chains of hemoglobin, to mild abnormality of the beta chain at the same 6th position.

This understanding is importance for both medical lab technologists who perform these tests, the nurses who counsel the patients, and the physician in charge of diagnosing and managing these conditions.
They don't test the same on electrophoresis, because their amino acid components are not similar, therefore if your lab has been identifyoing thalassamia in terms of AS, SS, then that is wrong

Protein0:


To sign out, what will beta thalassemia major read on electrophoresis?

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.

Protein0:


To sign out, what will beta thalassemia major read on electrophoresis?

sainty2k3:

Most likely only an A band which might appear faint , then if ur electrophoresis can pick HbA2 you will also see that ban , you are using an acidic medium

jnrremedy:


SS

MrOlai:
Please, Doctors in the house, how do you explain the different genotypes we have in the world today in relation to Adam and Eve being the first two persons created by God?

What was the likely genotype of Adam?

What was the likely genotype of his wife Eve?

innosaint27:






Oga I use God beg you, never in your life should you again classify Hb Genotype AS as a type of sickle cell disease (SCD). You and the textbook you copied from are totally wrong.


Individuals with HB genotype AS are normal in all sense with those who are AA except that they posses sickle cell trait. This means that, if they get married to another individual who is heterozygote (AS or SC or AC) for the sickle cell trait or homozygote (SS), they stand the risk of producing offsprings with sickle cell disease (SS or SC).

Pls, I repeat those with genotype AS are 100% NORMAL. THEY ARE NOT SICKLERS. THEY ONLY CARRY THE SICKLE CELL TRAIT.

As for the thalasaemias, their prevalence is extremely low in people of African descents. So, what we ought to be bothered about is SICKLE CELL ANAEMIA (HBSS/HBSC)

Protein0:



Check jnrremedy's answer