I found the following paragraph in an article about blood disorders related to Hereditary Persistence of Fetal Hemoglobin, the disorder that we are hoping hoping hoping that Nic has (still no confirmation, the other option from what I can tell is called sickle/b-thalassemia and it is no where near as nice as sickle/HPFH). It explains why we had to wait so long to do his testing...
Sickle/hereditary persistence of fetal hemoglobin
A child who inherits a sickle gene from one parent and an HPFH gene from the other parent will have sickle/HPFH, an asymptomatic condition. This genotype can be misdiagnosed as sickle/beta-thalassemia, a symptomatic condition.
The best way to distinguish the two is to test the parents.
If the parents are not available for testing, retesting the infant at 1 year of age or older is recommended since by then the Hb F will be reduced to the level the child will exhibit as an adult. A child with sickle/b-thalassemia, like all infants with sickle cell disease, requires penicillin prophylaxis. A child with sickle/HPFH will not experience the symptoms of sickle cell disease and penicillin prophylaxis is not required.
A child who inherits a sickle gene from one parent and an HPFH gene from the other parent will have sickle/HPFH, an asymptomatic condition. This genotype can be misdiagnosed as sickle/beta-thalassemia, a symptomatic condition.
The best way to distinguish the two is to test the parents.
If the parents are not available for testing, retesting the infant at 1 year of age or older is recommended since by then the Hb F will be reduced to the level the child will exhibit as an adult. A child with sickle/b-thalassemia, like all infants with sickle cell disease, requires penicillin prophylaxis. A child with sickle/HPFH will not experience the symptoms of sickle cell disease and penicillin prophylaxis is not required.
I guess Nic's hematologist doesn't think we look alike...
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:)
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