What genetic abnormality is responsible for the disorder? (e.g. DNA mutation, chromosomal mutation (e.g. duplication, translocation, inversion), abnormal number of chromosomes, etc.) Sickle cell disease is caused by mutation of hemoglobin-Beta gene.
On to which chromosome/s has the genetic abnormality been mapped? Sickle cell disease is found in chromosme 11.
What is the phenotype of an individual with the disorder? (Note: Phenotype does not always correspond to the physical appearance of an organism) Heterozygous (genotype=AS) have sickle cell disease.
How is the disorder diagnosed? Is there a routine genetic test? If you are diagnosed with hemoglobin you have sickle cell disorder.
What treatment options are available for individuals affected by the disorder? Medication , immunizations Performing tests Educating families about the disease and what to watch on sickle cell disorder.
Is the disorder heritable? Can it be passed onto future generations? Sickle cell disease is inherited condition. Both parents have to have hemoglobin to inherit from one's parent to another.