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 a mutation in the hemoglobin-Beta gene.
On to which chromosome/s has the genetic abnormality been mapped? Sickle cell disease was found in chromosome 11.
What is the phenotype of an individual with the disorder? (Note: Phenotype does not always correspond to the physical appearance of an organism) individuals who are heterozygous (genotype = AS) are known to have sickle cell disease.
How is the disorder diagnosed? Is there a routine genetic test? A blood test can check for hemoglobin S, if you have hemoglobin you have sickle cell disorder.
What treatment options are available for individuals affected by the disorder? Examining the person, Giving medicines, and immunizations Performing tests Educating families about the disease and what to watch out for is how to treat sickle cell disorder.
Is the disorder heritable? Can it be passed onto future generations? Sickle cell disease is an inherited condition. Two genes for the sickle hemoglobin must be inherited from one's parents in order to have the disease.