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My Sons Blood Work Said He Had Rare Value In

Posted on Sun, 13 Oct 2019

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

Follow up: Dr. Shailja Puri (0 minute later)

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

Answered by Dr. Shailja Puri (8 hours later)

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

Above answer was peer-reviewed by : Dr. Raju A.T

Answered by Dr. Shailja Puri (0 minute later)

Above answer was peer-reviewed by : Dr. Raju A.T

Follow up: Dr. Shailja Puri (42 hours later)

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

Follow up: Dr. Shailja Puri (0 minute later)

Follow up: Dr. Shailja Puri (22 hours later)

Follow up: Dr. Shailja Puri (0 minute later)

Answered by Dr. Shailja Puri (5 hours later)

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

Above answer was peer-reviewed by : Dr. Prasad

Answered by Dr. Shailja Puri (0 minute later)

Above answer was peer-reviewed by : Dr. Prasad

Follow up: Dr. Shailja Puri (22 hours later)

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

Follow up: Dr. Shailja Puri (0 minute later)

Answered by Dr. Shailja Puri (39 minutes later)

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

Above answer was peer-reviewed by : Dr. Prasad

Answered by Dr. Shailja Puri (0 minute later)

Above answer was peer-reviewed by : Dr. Prasad

Follow up: Dr. Shailja Puri (1 hour later)

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?

Follow up: Dr. Shailja Puri (0 minute later)

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?

Answered by Dr. Shailja Puri (14 hours later)

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

Above answer was peer-reviewed by : Dr. Kampana