
My Sons Blood Work Said He Had Rare Value In

Question: My sons blood work said he had rare value in red blood cells.Says his red blood cells are sphere shaped.What condition could this imply and what other testing should be done.Thank you

My sons blood work said he had rare value in red blood cells.Says his red blood cells are sphere shaped.What condition could this imply and what other testing should be done.Thank you
Brief Answer:
Spherocytosis is seen in hereditary spherocytosis and hemolytic anemia
Detailed Answer:
Hello,
Thanks for posting your query on HealthcareMagic.
Spherical red blood cells (RBCs) are seen in hereditary spherocytosis, autoimmune hemolytic anemia, after blood transfusion, long standing blood sample to name a few conditions.
Clinical history and complete blood work up is required for definitive diagnosis.
Kindly, upload the correct report for interpretation.
The report posted by you is not correct.
Thanks and take care
Dr Shailja Puri
Spherocytosis is seen in hereditary spherocytosis and hemolytic anemia
Detailed Answer:
Hello,
Thanks for posting your query on HealthcareMagic.
Spherical red blood cells (RBCs) are seen in hereditary spherocytosis, autoimmune hemolytic anemia, after blood transfusion, long standing blood sample to name a few conditions.
Clinical history and complete blood work up is required for definitive diagnosis.
Kindly, upload the correct report for interpretation.
The report posted by you is not correct.
Thanks and take care
Dr Shailja Puri
Above answer was peer-reviewed by :
Dr. Raju A.T

Brief Answer:
Spherocytosis is seen in hereditary spherocytosis and hemolytic anemia
Detailed Answer:
Hello,
Thanks for posting your query on HealthcareMagic.
Spherical red blood cells (RBCs) are seen in hereditary spherocytosis, autoimmune hemolytic anemia, after blood transfusion, long standing blood sample to name a few conditions.
Clinical history and complete blood work up is required for definitive diagnosis.
Kindly, upload the correct report for interpretation.
The report posted by you is not correct.
Thanks and take care
Dr Shailja Puri
Spherocytosis is seen in hereditary spherocytosis and hemolytic anemia
Detailed Answer:
Hello,
Thanks for posting your query on HealthcareMagic.
Spherical red blood cells (RBCs) are seen in hereditary spherocytosis, autoimmune hemolytic anemia, after blood transfusion, long standing blood sample to name a few conditions.
Clinical history and complete blood work up is required for definitive diagnosis.
Kindly, upload the correct report for interpretation.
The report posted by you is not correct.
Thanks and take care
Dr Shailja Puri
Above answer was peer-reviewed by :
Dr. Raju A.T


Hello
It says spherocytes value rare.Also sows High BUN, Lipase, bilirubin segs and segs ab.Glucose low.Hi cortisol and cholesterol.high folate and b12 as well as testosterone (testosterone was abnormally low but now is high.genetic testing showed 1 mutated gene
What other test do you recommend?
Thank you
It says spherocytes value rare.Also sows High BUN, Lipase, bilirubin segs and segs ab.Glucose low.Hi cortisol and cholesterol.high folate and b12 as well as testosterone (testosterone was abnormally low but now is high.genetic testing showed 1 mutated gene
What other test do you recommend?
Thank you

Hello
It says spherocytes value rare.Also sows High BUN, Lipase, bilirubin segs and segs ab.Glucose low.Hi cortisol and cholesterol.high folate and b12 as well as testosterone (testosterone was abnormally low but now is high.genetic testing showed 1 mutated gene
What other test do you recommend?
Thank you
It says spherocytes value rare.Also sows High BUN, Lipase, bilirubin segs and segs ab.Glucose low.Hi cortisol and cholesterol.high folate and b12 as well as testosterone (testosterone was abnormally low but now is high.genetic testing showed 1 mutated gene
What other test do you recommend?
Thank you

Hello
It says spherocytes value rare.Also sows High BUN, Lipase, bilirubin segs and segs ab.Glucose low.Hi cortisol and cholesterol.high folate and b12 as well as testosterone (testosterone was abnormally low but now is high.genetic testing showed 1 mutated gene
What other test do you recommend?
Thank you
It says spherocytes value rare.Also sows High BUN, Lipase, bilirubin segs and segs ab.Glucose low.Hi cortisol and cholesterol.high folate and b12 as well as testosterone (testosterone was abnormally low but now is high.genetic testing showed 1 mutated gene
What other test do you recommend?
Thank you

Hello
It says spherocytes value rare.Also sows High BUN, Lipase, bilirubin segs and segs ab.Glucose low.Hi cortisol and cholesterol.high folate and b12 as well as testosterone (testosterone was abnormally low but now is high.genetic testing showed 1 mutated gene
What other test do you recommend?
Thank you
It says spherocytes value rare.Also sows High BUN, Lipase, bilirubin segs and segs ab.Glucose low.Hi cortisol and cholesterol.high folate and b12 as well as testosterone (testosterone was abnormally low but now is high.genetic testing showed 1 mutated gene
What other test do you recommend?
Thank you
Brief Answer:
Kindly, post the report of mutated gene
Detailed Answer:
Hello and welcome again,
High value of vitamin B12 are seen in liver diseases.
High cholesterol suggests deranged lipid profile.
High BUN suggests kidney related disorder.
High lipase is seen in pancreatitis.
High bilirubin is dues to liver associated pathology.
Variation in testosterone and high cortisol can be due to hormonal disturbance.
Kindly, post the report of mutated gene for better understanding of the problem.
Thanks and take care
Dr Shailja Puri
Kindly, post the report of mutated gene
Detailed Answer:
Hello and welcome again,
High value of vitamin B12 are seen in liver diseases.
High cholesterol suggests deranged lipid profile.
High BUN suggests kidney related disorder.
High lipase is seen in pancreatitis.
High bilirubin is dues to liver associated pathology.
Variation in testosterone and high cortisol can be due to hormonal disturbance.
Kindly, post the report of mutated gene for better understanding of the problem.
Thanks and take care
Dr Shailja Puri
Above answer was peer-reviewed by :
Dr. Prasad

Brief Answer:
Kindly, post the report of mutated gene
Detailed Answer:
Hello and welcome again,
High value of vitamin B12 are seen in liver diseases.
High cholesterol suggests deranged lipid profile.
High BUN suggests kidney related disorder.
High lipase is seen in pancreatitis.
High bilirubin is dues to liver associated pathology.
Variation in testosterone and high cortisol can be due to hormonal disturbance.
Kindly, post the report of mutated gene for better understanding of the problem.
Thanks and take care
Dr Shailja Puri
Kindly, post the report of mutated gene
Detailed Answer:
Hello and welcome again,
High value of vitamin B12 are seen in liver diseases.
High cholesterol suggests deranged lipid profile.
High BUN suggests kidney related disorder.
High lipase is seen in pancreatitis.
High bilirubin is dues to liver associated pathology.
Variation in testosterone and high cortisol can be due to hormonal disturbance.
Kindly, post the report of mutated gene for better understanding of the problem.
Thanks and take care
Dr Shailja Puri
Above answer was peer-reviewed by :
Dr. Prasad


Hello
The genetic report says alteration c.2204T>A(p.V735E) Heterozygous type
alteration type missense
gene (refseq ID) APOB (NM_000384
Familial hypobetalipoproteinemia (AR)
All coding exons of this gene were covered 100% at >10x.overlapping clinical features with this patient include fat malabsorption and fatty liver.
1 notable gene (1 unique alteration.
this test included blood from XXXXXXX and myself (mom) but not his father.
Please let me know if you need any more info.Thank you XXXXXXX ( Logan's mom
The genetic report says alteration c.2204T>A(p.V735E) Heterozygous type
alteration type missense
gene (refseq ID) APOB (NM_000384
Familial hypobetalipoproteinemia (AR)
All coding exons of this gene were covered 100% at >10x.overlapping clinical features with this patient include fat malabsorption and fatty liver.
1 notable gene (1 unique alteration.
this test included blood from XXXXXXX and myself (mom) but not his father.
Please let me know if you need any more info.Thank you XXXXXXX ( Logan's mom

Hello
The genetic report says alteration c.2204T>A(p.V735E) Heterozygous type
alteration type missense
gene (refseq ID) APOB (NM_000384
Familial hypobetalipoproteinemia (AR)
All coding exons of this gene were covered 100% at >10x.overlapping clinical features with this patient include fat malabsorption and fatty liver.
1 notable gene (1 unique alteration.
this test included blood from XXXXXXX and myself (mom) but not his father.
Please let me know if you need any more info.Thank you XXXXXXX ( Logan's mom
The genetic report says alteration c.2204T>A(p.V735E) Heterozygous type
alteration type missense
gene (refseq ID) APOB (NM_000384
Familial hypobetalipoproteinemia (AR)
All coding exons of this gene were covered 100% at >10x.overlapping clinical features with this patient include fat malabsorption and fatty liver.
1 notable gene (1 unique alteration.
this test included blood from XXXXXXX and myself (mom) but not his father.
Please let me know if you need any more info.Thank you XXXXXXX ( Logan's mom
Brief Answer:
Management of complication, nutritional replacement & genetic counselling
Detailed Answer:
Hello and welcome again,
No further testing is required.
Infact the abnormalities produced by familial hypolipoproteinemia need to be manged.
Familial hypolipoproteinemia is a inherited by co-dominant genes, that is one copy inherited from each parent.
The disease causes abnormal absorption of lipids from diet and abnormal built up of fats in liver thus, leading to abnormal liver functions.
This needs reversal of fatty liver by various drugs.
Fat soluble vitamin - vitamin D and E are also deficient in body.
These vitamins too need to be replaced.
Genetic counseling to prevent the disease in future generations is also required.
I suggest you to consult your physician and genetic counselor for further management.
Thanks and take care
Dr Shailja Puri
Management of complication, nutritional replacement & genetic counselling
Detailed Answer:
Hello and welcome again,
No further testing is required.
Infact the abnormalities produced by familial hypolipoproteinemia need to be manged.
Familial hypolipoproteinemia is a inherited by co-dominant genes, that is one copy inherited from each parent.
The disease causes abnormal absorption of lipids from diet and abnormal built up of fats in liver thus, leading to abnormal liver functions.
This needs reversal of fatty liver by various drugs.
Fat soluble vitamin - vitamin D and E are also deficient in body.
These vitamins too need to be replaced.
Genetic counseling to prevent the disease in future generations is also required.
I suggest you to consult your physician and genetic counselor for further management.
Thanks and take care
Dr Shailja Puri
Above answer was peer-reviewed by :
Dr. Prasad

Brief Answer:
Management of complication, nutritional replacement & genetic counselling
Detailed Answer:
Hello and welcome again,
No further testing is required.
Infact the abnormalities produced by familial hypolipoproteinemia need to be manged.
Familial hypolipoproteinemia is a inherited by co-dominant genes, that is one copy inherited from each parent.
The disease causes abnormal absorption of lipids from diet and abnormal built up of fats in liver thus, leading to abnormal liver functions.
This needs reversal of fatty liver by various drugs.
Fat soluble vitamin - vitamin D and E are also deficient in body.
These vitamins too need to be replaced.
Genetic counseling to prevent the disease in future generations is also required.
I suggest you to consult your physician and genetic counselor for further management.
Thanks and take care
Dr Shailja Puri
Management of complication, nutritional replacement & genetic counselling
Detailed Answer:
Hello and welcome again,
No further testing is required.
Infact the abnormalities produced by familial hypolipoproteinemia need to be manged.
Familial hypolipoproteinemia is a inherited by co-dominant genes, that is one copy inherited from each parent.
The disease causes abnormal absorption of lipids from diet and abnormal built up of fats in liver thus, leading to abnormal liver functions.
This needs reversal of fatty liver by various drugs.
Fat soluble vitamin - vitamin D and E are also deficient in body.
These vitamins too need to be replaced.
Genetic counseling to prevent the disease in future generations is also required.
I suggest you to consult your physician and genetic counselor for further management.
Thanks and take care
Dr Shailja Puri
Above answer was peer-reviewed by :
Dr. Prasad


Thank you
Is this why his red blood cells show rare value and should anything be done in addition to what you listed for problems with the spleen?
Is this why his red blood cells show rare value and should anything be done in addition to what you listed for problems with the spleen?

Thank you
Is this why his red blood cells show rare value and should anything be done in addition to what you listed for problems with the spleen?
Is this why his red blood cells show rare value and should anything be done in addition to what you listed for problems with the spleen?
Brief Answer:
Small number of pherocytes do not indicate any serious disease
Detailed Answer:
Hello and welcome again,
A small number of spherocytes do not indicate any serious disease.
Some number of spherocytes can occur due to long standing blood.In case the spherocytes are more than 50% of total red blood cells, it needs to be investigated for hereditary spherocytosis by performing molecular test for spectrin and ankyrin.
Thanks and take care
Dr Shailja Puri
Small number of pherocytes do not indicate any serious disease
Detailed Answer:
Hello and welcome again,
A small number of spherocytes do not indicate any serious disease.
Some number of spherocytes can occur due to long standing blood.In case the spherocytes are more than 50% of total red blood cells, it needs to be investigated for hereditary spherocytosis by performing molecular test for spectrin and ankyrin.
Thanks and take care
Dr Shailja Puri
Above answer was peer-reviewed by :
Dr. Kampana

Brief Answer:
Small number of pherocytes do not indicate any serious disease
Detailed Answer:
Hello and welcome again,
A small number of spherocytes do not indicate any serious disease.
Some number of spherocytes can occur due to long standing blood.In case the spherocytes are more than 50% of total red blood cells, it needs to be investigated for hereditary spherocytosis by performing molecular test for spectrin and ankyrin.
Thanks and take care
Dr Shailja Puri
Small number of pherocytes do not indicate any serious disease
Detailed Answer:
Hello and welcome again,
A small number of spherocytes do not indicate any serious disease.
Some number of spherocytes can occur due to long standing blood.In case the spherocytes are more than 50% of total red blood cells, it needs to be investigated for hereditary spherocytosis by performing molecular test for spectrin and ankyrin.
Thanks and take care
Dr Shailja Puri
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now
Above answer was peer-reviewed by :
Dr. Kampana

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