In response to this thread: https://www.nairaland.com/6391103/undetected-sickle-celler


It is possible the woman is AA, but she's most likely a beta thalassemia carrier, which most Nigerian labs don't test for!

The child inherited a HbS gene from the father and a beta thalassemia gene from the mother.

Here's what is likely going on in the child:
The thalassemic Hb gene from the mother cannot produce any reasonable hemoglobin.
The HbS gene from the father produces sickled hemoglobin.

The end result is the child having sickled hemoglobin in his/her blood, which Nigerian labs would tag SS. But, genetically, the child is HbAS with an inactive (beta thalassemic) HbA component and an active HbS component!

Some of you are wondering why the woman did the SCD test 5x and 2x again during antenatal: Well, someone might have had a hemoglobinopathy (beta thalassemia) in her family, which she, just like any of you here, might have thought was sickle cell anemia. So, she wanted to be sure she doesn't have it. Obviously, she doesn't have the beta thalassemia, but unfortunately, she's a carrier. The point is, SCD is not the only hemoglobinopathy (hereditary blood disorder); there are others like beta thalassemia, which are also recessive. When a carrier of SCD (AS) marries an AA who's a beta thalassemia carrier, they can have an AS child that manifests as SS because the HbA component habeen rendered inactive by the beta thalassemia gene!

Regarding the woman's latest test that showed AS: The result cannot be trusted! The principle of "when you know what you are looking for, that's what you will find" was most likely at play there. It's a very important principle in medicine, which is why in clinical trials to ascertain the effectiveness of a drug, researchers do a double blind randomized study — both the doctor and the patients don't know who's receiving the real drug and who's receiving the placebo so as to remove the effects of biases.

My point is, the lab scientist who did the last test (which was after the child tested positive for sickled hemoglobin) was already biased. S/he knew what they're looking for and that's what s/he gave as the result. I would rather trust the previous 7 tests than trust that last test. To clear the doubt, a new test (possibly HB electrophoresis) must be done by a new lab without prior knowledge of the situation!

@Ishilove, please put this on the front page so that people can learn and stop castigating the woman. She's lucky that she wasn't the AS and her husband AA; if not, she would have been accused of paternity fraud while innocent!

This is educative.

The issue of hemoglobin variation exit in humans. I am of the opinion that other variant apart from the Hba, Hbs and HbC shows no morphological or serious traits.

Summarizing your write-up, mutation (variation) of hemoglobin could be a result the genes mutation or deletion hence the hemoglobin produced is either faulty or insufficient or absent.

Hmmmm...explained this way makes sense. So what's the way forward? Thank God the husband is reasonable enough to seek clarification cos I was so sure she played a fast one there.

Mydd44...good morning o
Lalasticlala...happy Sunday o

studentofTruth:
In response to this thread: https://www.nairaland.com/6391103/undetected-sickle-celler


It is possible the woman is AA, but she's most likely a beta thalassemia carrier, which most Nigerian labs don't test for!

The child inherited a HbS gene from the father and a beta thalassemia gene from the mother.

Here's what is likely going on in the child:
The thalassemic Hb gene from the mother cannot produce any reasonable hemoglobin.
The HbS gene from the father produces sickled hemoglobin.

The end result is the child having sickled hemoglobin in his/her blood, which Nigerian labs would tag SS. But, genetically, the child is HbAS with an inactive (beta thalassemic) HbA component and an active HbS component!

Some of you are wondering why the woman did the SCD test 5x and 2x again during antenatal: Well, someone might have had a hemoglobinopathy (beta thalassemia) in her family, which she, just like any of you here, might have thought was sickle cell anemia. So, she wanted to be sure she doesn't have it. Obviously, she doesn't have the beta thalassemia, but unfortunately, she's a carrier. The point is, SCD is not the only hemoglobinopathy (hereditary blood disorder); there are others like beta thalassemia, which are also recessive. When a carrier of SCD (AS) marries an AA who's a beta thalassemia carrier, they can have an AS child that manifests as SS because the HbA component habeen rendered inactive by the beta thalassemia gene!

Regarding the woman's latest test that showed AS: The result cannot be trusted! The principle of "when you know what you are looking for, that's what you will find" was most likely at play there. It's a very important principle in medicine, which is why in clinical trials to ascertain the effectiveness of a drug, researchers do a double blind randomized study — both the doctor and the patients don't know who's receiving the real drug and who's receiving the placebo so as to remove the effects of biases.

My point is, the lab scientist who did the last test (which was after the child tested positive for sickled hemoglobin) was already biased. S/he knew what they're looking for and that's what s/he gave as the result. I would rather trust the previous 7 tests than trust that last test. To clear the doubt, a new test (possibly HB electrophoresis) must be done by a new lab without prior knowledge of the situation!

@Ishilove, please put this on the front page so that people can learn and stop castigating the woman. She's lucky that she wasn't the AS and her husband AA; if not, she would have been accused of paternity fraud while innocent!

I thank you so much for this professional insight. Let all come and learn.

But did you mean she should actually be AA genotype and not AS as the last test showed?
@Ishilove, come and see oo.

pragmatistm:

I thank you so much for this professional insight. Let all come and learn.

But did you mean she should actually be AA genotype and not AS as the last test showed?
@Ishilove, come and see oo.

The woman is AA: that last result done after the child was assumed SS for having sickled cells cannot be trusted. It's done with a bias!

The baby is AS but is manifesting SCA as though he's an SS because the beta thalassemia gene rendered the HbA gene inactive. As a result, only the HbS gene was producing hemoglobins, which, of course, are sickled. The lab scientist seeing many sickled cells in the kids blood, assumed that the kid's genotype SS. The key error was using a phenotype test to conclude that the child is SS, which made them to start questioning the woman's AA results!

A professional point of view. Well explained,

studentofTruth:
In response to this thread: https://www.nairaland.com/6391103/undetected-sickle-celler


It is possible the woman is AA, but she's most likely a beta thalassemia carrier, which most Nigerian labs don't test for!

The child inherited a HbS gene from the father and a beta thalassemia gene from the mother.

Here's what is likely going on in the child:
The thalassemic Hb gene from the mother cannot produce any reasonable hemoglobin.
The HbS gene from the father produces sickled hemoglobin.

The end result is the child having sickled hemoglobin in his/her blood, which Nigerian labs would tag SS. But, genetically, the child is HbAS with an inactive (beta thalassemic) HbA component and an active HbS component!

Some of you are wondering why the woman did the SCD test 5x and 2x again during antenatal: Well, someone might have had a hemoglobinopathy (beta thalassemia) in her family, which she, just like any of you here, might have thought was sickle cell anemia. So, she wanted to be sure she doesn't have it. Obviously, she doesn't have the beta thalassemia, but unfortunately, she's a carrier. The point is, SCD is not the only hemoglobinopathy (hereditary blood disorder); there are others like beta thalassemia, which are also recessive. When a carrier of SCD (AS) marries an AA who's a beta thalassemia carrier, they can have an AS child that manifests as SS because the HbA component habeen rendered inactive by the beta thalassemia gene!

Regarding the woman's latest test that showed AS: The result cannot be trusted! The principle of "when you know what you are looking for, that's what you will find" was most likely at play there. It's a very important principle in medicine, which is why in clinical trials to ascertain the effectiveness of a drug, researchers do a double blind randomized study — both the doctor and the patients don't know who's receiving the real drug and who's receiving the placebo so as to remove the effects of biases.

My point is, the lab scientist who did the last test (which was after the child tested positive for sickled hemoglobin) was already biased. S/he knew what they're looking for and that's what s/he gave as the result. I would rather trust the previous 7 tests than trust that last test. To clear the doubt, a new test (possibly HB electrophoresis) must be done by a new lab without prior knowledge of the situation!

@Ishilove, please put this on the front page so that people can learn and stop castigating the woman. She's lucky that she wasn't the AS and her husband AA; if not, she would have been accused of paternity fraud while innocent!

Thank you for this piece!

in another thread we have been trying to get people to understand the issues but they are very stubborn

mods help our ministry o!

studentofTruth:


The woman is AA: that last result done after the child was assumed SS for having sickled cells cannot be trusted. It's done with a bias!

The baby is AS but is manifesting SCA as though he's an SS because the beta thalassemia gene rendered the HbA gene inactive. As a result, only the HbS gene was producing hemoglobins, which, of course, are sickled. The lab scientist seeing many sickled cells in the kids blood, assumed that the kid's genotype SS. The key error was using a phenotype test to conclude that the child is SS, which made them to start questioning the woman's AA results!

mods
frontpage o

this is about life and death o!

@ bigtboi come and see the likely solution to your problem before you mess up your marriage

Sup boss u inboxed me?