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Forum Name: Hematology Topics

Question: Hemoglobin Koln


 shelbyn - Mon Oct 22, 2007 10:59 am

When my son was 10 months we had to take him to the hospital because his hemoglobin level was 4.7. When we were there he had two blood transfusions. The doctors were not sure what was going on with my son. They found out about two weeks later when they got the blood results back found out that he had a abnormal hemoglobin called Koln. I haven't heard about this condition until they diagnosed my son. He is now 15 months and just recently had a virus and we thought we might have to go through another blood tranfusion but his body was able to bounce back from the illness. With this condition he has signs to watch for and I was able to get him to the doctor before he was to weak. Question: I would love to know if this abnormal hemoglobin is hereditary.
 Dr. Chan Lowe - Fri Nov 02, 2007 1:24 pm

User avatar Hi Shelbyn,

There is not a lot of information about the Hemoglobin Koln mutation. I can't really give you any specifics about this mutation itself; however, in general, hemoglobin mutations are hereditary.

For many hemoglobinopathies it takes two copies of a gene mutation (though not necessarily the same mutation) to cause problems. A few can cause problems with only one copy.

Almost certainly your son will be able to pass this gene on to his children. His copy may have arisen from a spontaneous mutation but now that it is there it can be passed on.

The part I'm less familiar with is what this will actually mean for his children. In many cases it doesn't cause problems because the other genes received from the other parent are normal. Given the apparent rarity of this particular mutation it is unlikely he will meet someone with the same mutation.

A hematologist will probably be able to give you much better information that I am giving you. It is very reasonable to set up an appointment with a pediatric hematologist to discuss this.

Best wishes.

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