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Wednesday, August 20, 2014
Inherited Disorders and Birth Defects
Hereditary Spherocytosis and Fat Loss
I`m not sure if this has any impact in my journey to lose body fat but I was born with Hereditary spherocytosis. I also had/have these conditions: anemia (Last time I saw the doc he said I was no longer anemic!!) splenomegaly (enlargement of the spleen) Anyone with knowledge on this please let me know if this will have a MAJOR impact on my fat loss journey,as far as metabolism, protein synthesis, catabolism, any any other factors in the entire picture of fat loss and if so is there so more or less I need to do. I have been losing weight at a steady pace but I am wondering if eventually I will hit a brick wall.
I am not able to answer your question regarding the impact of having hereditary sperhocytosis has on weight loss and we do not have another expert at this time who is able to answer your question. However, I would recommend that you contact your doctor or have your doctor refer you to a specialist such as a hematologist to discuss your questions.
What I can tell you, and which you are probably well aware of, is that hereditary spherocytosis is an inherited disease that affects the red blood cell and causes anemia, yellowing of the skin (jaundice) and an enlarged spleen. In most families, the disease is caused by change (mutation) in the gene that makes a protein called ankyrin 1. It is inherited as an autosomal disorder, meaning that any person who has the gene change that causes hereditary spherocytosis has a 1 in 2 or 50:50 chance of passing the mutated gene on to any child that person may have.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University